Research Publications

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Timsina J, Dinasarapu A, Kilic-Berkmen G, Budde J, Sung YJ, Klein AM, Cruchaga C, Jinnah HA. Blood-Based Proteomics for Adult-Onset Focal Dystonias. Ann Neurol. 2024 Jul;96(1):110-120. doi: 10.1002/ana.26929. Epub 2024 Apr 5. PMID: 38578115; PMCID: PMC11186717.

Adult-onset focal dystonias are neurological disorders characterized by overactive muscles leading to involuntary, sometimes painful movements in one part of the body. In most cases, the cause and development of these disorders are unknown.

In this study, researchers used proteomics methods to identify potential changes in blood plasma proteins in patients with adult-onset focal dystonias. The team compared over 6,000 proteins in the blood plasma of participants with cervical dystonia, laryngeal dystonia, and blepharospasm, as well as healthy controls. Next, researchers identified relevant biological pathways and used protein changes to build a prediction model for dystonia.

Results show that 15 proteins were associated with adult-onset focal dystonia, with some proteins shared across multiple subgroups and others unique to just one. The top biological pathways involved changes in the immune system, metal ion transport, and reactive oxygen species. Finally, the prediction model showed high accuracy in discriminating control participants from those with dystonia. Authors note that this study provides new insights into the cause and development of dystonia, as well as new potential biomarkers.

Castagna A, Jinnah HA, Albanese A. Duration of botulinum toxin efficacy in cervical dystonia clinical trials: A scoping review. Parkinsonism Relat Disord. 2024 May 29;125:107011. doi: 10.1016/j.parkreldis.2024.107011. Online ahead of print.

Cash TV, Lessov-Schlaggar CN, Foster ER, Myers PS, Jackson JJ, Maiti B, Kotzbauer PT, Perlmutter JS, Campbell MC. Replication and reliability of Parkinson's disease clinical subtypes. Parkinsonism Relat Disord. 2024 May 22;124:107016. doi: 10.1016/j.parkreldis.2024.107016. Online ahead of print.

Kilic-Berkmen G, Scorr LM, McKay L, Thayani M, Donsante Y, Perlmutter JS, Norris SA, Wright L, Klein C, Feuerstein JS, Mahajan A, Wagle-Shukla A, Malaty I, LeDoux MS, Pirio-Richardson S, Pantelyat A, Moukheiber E, Frank S, Ondo W, Saunders-Pullman R, Lohman K, Hess EJ, Jinnah HA. Sex Differences in Dystonia. Mov Disord Clin Pract. 2024 May 22. doi: 10.1002/mdc3.14059. Epub ahead of print. PMID: 38778444.

Dystonia is a neurological disorder characterized by excessive muscle contractions leading to abnormal postures, movements, and pain. Previous studies have suggested that there are more female individuals with certain types of dystonia compared to male individuals. However, not much is known about the factors that impact these differences or the mechanisms behind them.

In this study, researchers explored the factors and mechanisms underlying differences between males and females with dystonia. The team analyzed data from two different sources, including 3,222 individuals from the Dystonia Coalition database and 1,377 individuals from the Movement Disorder Society Genetic mutation (MDSGene) database.

Results show that female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic (single-gene) dystonias, with females making up about two-thirds of all cases. In addition, these findings reveal that the ratio of females to males with dystonia depends on the type of dystonia, age, and underlying genetics.

Di Luca DG, Perlmutter JS. Time for Clinical Dopamine Transporter Scans in Parkinsonism?: Not DAT Yet. Neurology. 2024 Jun 11;102(11):e209558. doi: 10.1212/WNL.0000000000209558. Epub 2024 May 17.

Thayani M, Jinnah HA. Can symptoms or signs of cervical dystonia occur without abnormal movements of the head or neck?. Parkinsonism Relat Disord. 2024 Jun;123:106958. doi: 10.1016/j.parkreldis.2024.106958. Epub 2024 Apr 16.

Kilic-Berkmen G, Scorr LM, Defazio G, Jinnah HA. Thyroid disease and cervical dystonia. Parkinsonism Relat Disord. 2024 Mar 2:106082. doi: 10.1016/j.parkreldis.2024.106082. Epub ahead of print. PMID: 38458834.

Scorr LM, Kilic-Berkmen G, Sutcliffe DJ, Dinasarapu AR, McKay JL, Bagchi P, Powell MD, Boss JM, Cereb N, Little M, Gragert L, Hanfelt J, McKeon A, Tyor W, Jinnah HA. Exploration of potential immune mechanisms in cervical dystonia. Parkinsonism Relat Disord. 2024 Feb 17:106036. doi: 10.1016/j.parkreldis.2024.106036. Epub ahead of print. PMID: 38462403.

Kilic-Berkmen G, Kim H, Chen D, Yeo CI, Dinasarapu AR, Scorr LM, Yeo WH, Peterson DA, Williams H, Ruby A, Mills R, Jinnah HA. An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm. Mov Disord. 2024 Feb 3. doi: 10.1002/mds.29734. Epub ahead of print. PMID: 38310362.

Blepharospasm is a type of dystonia (involuntary muscle twitching) which affects the muscles surrounding both eyes, causing forced blinking, eye irritation, and involuntary closure of the eyes. Although blepharospasm can be treated with a medication called botulinum toxin, outcomes are often inconsistent.

In this study, researchers conducted an exploratory, randomized, double-blind clinical trial of the oral drug dipraglurant for blepharospasm. Fifteen individuals with blepharospasm received either a placebo or dipraglurant. The team used multiple scales rated by clinicians or participants, digital video, and a wearable sensor to assess outcomes.

Results show that although dipraglurant was well tolerated in study participants, it did not produce an obvious benefit. Authors note that these results provide valuable information for planning future trials in blepharospasm.

Boz D, Kilic-Berkmen G, Perlmutter JS, Norris SA, Wright LJ, Klein C, Bäumer T, Löns S, Feuerstein JS, Mahajan A, Wagle-Shukla A, Malaty I, LeDoux MS, Ondo W, Pantelyat A, Frank S, Saunders-Pullman R, Jinnah HA. An Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia. Mov Disord Clin Pract. 2023 Nov 12;10(12):1777-1786. doi: 10.1002/mdc3.13909. eCollection 2023 Dec.

Ghanouni A, Jona N, Jinnah HA, Kilic-Berkmen G, Shelly S, Klein AM. Demographics and Clinical Characteristics Associated with the Spread of New-Onset Laryngeal Dystonia. Laryngoscope. 2024 May;134(5):2295-2299. doi: 10.1002/lary.31146. Epub 2023 Nov 1.

Junker J, Hall J, Berman BD, Vidailhet M, Roze E, Bäumer T, Malaty IA, Shukla AW, Jankovic J, Reich SG, Espay AJ, Duque KR, Patel N, Perlmutter JS, Jinnah HA; Dystonia Coalition Study Group; Brandt V, Brüggemann N. Longitudinal predictors of health-related quality of life in isolated dystonia. J Neurol. 2023 Oct 15. doi: 10.1007/s00415-023-12022-4. Online ahead of print.

Lee HY, Park I, Luu MP, Zhao J, Vu JP, Cisneros E, Berman BD, Jinnah HA, Kim HJ, Liu CY, Perlmutter JS, Richardson SP, Weissbach A, Stebbins GT, Peterson DA. Interrater reliability of motor severity scales for hemifacial spasm. J Neural Transm (Vienna). 2023 Oct;130(10):1269-1279. doi: 10.1007/s00702-023-02667-w. Epub 2023 Jul 19.

Cotton AC, Scorr L, McDonald W, Comella C, Perlmutter JS, Goetz CG, Jankovic J, Marsh L, Factor S, Jinnah HA. Assessing the Severity of Cervical Dystonia: Ask the Doctor or Ask the Patient. Mov Disord Clin Pract. 2023 Aug 3;10(9):1399-1403. doi: 10.1002/mdc3.13827. PMID: 37772296; PMCID: PMC10525044

Cervical dystonia is a rare, often painful, movement disorder associated with characteristic sustained or jerky involuntary muscle contractions of the neck. The severity of cervical dystonia can be assessed using either clinician-rated scales (CRS) or patient-rated outcome (PRO) tools. However, these two measures are often poorly correlated.

In this study, researchers aimed to determine if the correlation between a CRS and PRO for the movement disorder of cervical dystonia improves by accounting for non-movement features. The team evaluated 209 patients with cervical dystonia using a CRS and a PRO.

The results revealed a weak correlation between the two measures, even when considering only the movement. However, the correlation improved with a model that included non-motor symptoms of pain, depression, and disability. These results suggest that assessing the movement disorder with a PRO should also include assessments of non-motor symptoms that may contribute to the patient’s perception of the disorder. Findings may apply to other disorders, especially those with frequent non-motor co-morbidities.

Aravamuthan BR, Pearson TS, Ueda K, Miao H, Zerafati-Jahromi G, Gilbert L, Comella C, Perlmutter JS. Determinants of gait dystonia severity in cerebral palsy. Dev Med Child Neurol. 2023 Jul;65(7):968-977. doi: 10.1111/dmcn.15524. Epub 2023 Jan 26.

Younce JR, Cascella RH, Berman BD, Jinnah HA, Bellows S, Feuerstein J, Wagle Shukla A, Mahajan A, Chang FCF, Duque KR, Reich S, Richardson SP, Deik A, Stover N, Luna JM, Norris SA. Anatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach. Dystonia. 2023;2:11305. doi: 10.3389/dyst.2023.11305. Epub 2023 Jun 8. PMID: 37920445; PMCID: PMC10621194

Dystonia is a neurological disorder characterized by excessive muscle contractions leading to abnormal postures, movements, and pain. Any region of the body can be involved, either in isolation or in combination with another region of the body. Although accurate classification of these combinations is important to providing care, it can sometimes be inconsistent.

In this study, researchers used a data-driven clustering approach to investigate which combinations are most common in dystonia. The team analyzed 1,618 participants with isolated non-focal dystonia from the Dystonia Coalition database to explore which body regions were affected together.

Results reinforce common patterns in cranial and cervical regions. However, findings also show unexpectedly strong associations between bilateral upper or lower limbs, revealing new patterns that may represent an underrecognized dystonia subtype.

Albanese A, Wissel J, Jost WH, Castagna A, Althaus M, Comes G, Scheschonka A, Vacchelli M, Jinnah HA. Pain Reduction in Cervical Dystonia Following Treatment with IncobotulinumtoxinA: A Pooled Analysis. Toxins (Basel). 2023 May 12;15(5):333. doi: 10.3390/toxins15050333.

Vizcarra JA, Jinnah HA. What Is Hemidystonia. Mov Disord Clin Pract. 2023 Feb 3;10(3):477-481. doi: 10.1002/mdc3.13659. eCollection 2023 Mar.

Kilic-Berkmen G, Scorr L, Rosen A, Wu E, Freeman A, Silver M, Hanfelt J, Jinnah HA. Thyroid disease in cervical dystonia. Parkinsonism Relat Disord. 2023 Feb;107:105274. doi: 10.1016/j.parkreldis.2022.105274. Epub 2022 Dec 30. PMID: 36621155.

Bukhari-Parlakturk N, Lutz MW, Al-Khalidi HR, Unnithan S, Wang JE, Scott B, Termsarasab P, Appelbaum LG, Calakos N. Suitability of Automated Writing Measures for Clinical Trial Outcome in Writer's Cramp. Mov Disord. 2023 Jan;38(1):123-132. doi: 10.1002/mds.29237. Epub 2022 Oct 13.

Corp DT, Greenwood CJ, Morrison-Ham J, Pullinen J, McDowall GM, Younger EFP, Jinnah HA, Fox MD, Joutsa J. Clinical and Structural Findings in Patients With Lesion-Induced Dystonia: Descriptive and Quantitative Analysis of Published Cases. Neurology. 2022 Nov 1;99(18):e1957-e1967. doi: 10.1212/WNL.0000000000201042. Epub 2022 Aug 17.

Defazio G, Gigante AF, Hallett M, Berardelli A, Perlmutter JS, Berman BD, Jankovic J, Bäumer T, Comella C, Ercoli T, Ferrazzano G, Fox SH, Kim HJ, Moukheiber ES, Richardson SP, Weissbach A, Jinnah HA.. Motor and psychiatric features in idiopathic blepharospasm: A data-driven cluster analysis. Parkinsonism Relat Disord. 2022 Nov;104:94-98. doi: 10.1016/j.parkreldis.2022.10.008. Epub 2022 Oct 13.

Seifar F, Dinasarapu AR, Jinnah HA.. Uric Acid in Parkinson's Disease: What Is the Connection?. Mov Disord. 2022 Nov;37(11):2173-2183. doi: 10.1002/mds.29209. Epub 2022 Sep 3.

Peterson QA, Fei T, Sy LE, Froeschke LLO, Mendelsohn AH, Berke GS, Peterson DA. Correlating perceptual voice quality in ADSD with computer vision assessment of glottal geometry dynamics. J Speech Lang Hear Res. 2022 Oct 17;65(10):3695-3708. doi: 10.1044/2022_JSLHR-22-00053. Epub 2022 Sep 21.

Vu JP, Cisneros E, Zhao J, Lee HY, Jankovic J, Factor SA, Goetz CG, Barbano RL, Perlmutter JS, Jinnah HA, Richardson SP, Stebbins GT, Elble RJ, Comella CL, Peterson DA. From null to midline: changes in head posture do not predictably change head tremor in cervical dystonia. Dystonia. 2022;1:10684. doi: 10.3389/dyst.2022.10684. Epub 2022 Sep 1. PMID: 37101941; PMCID: PMC10128866.

Kilic-Berkmen G, Defazio G, Hallett M, Berardelli A, Ferrazzano G, Belvisi D, Klein C, Bäumer T, Weissbach A, Perlmutter JS, Feuerstein J, Jinnah HA; Dystonia Coalition Investigators. Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence. J Neurol Sci. 2022 Aug 15;439:120319. doi: 10.1016/j.jns.2022.120319. Epub 2022 Jun 10. PMID: 35716653; PMCID: PMC9357089.

Blepharospasm is a rare disorder characterized by spasms of muscles surrounding both eyes with excessive blinking and squinting. It is the second most common form of dystonia (involuntary muscle twitching) and often spreads to other regions of the body. Currently, guidelines for diagnosis and classification are ambiguous. In this study, researchers aimed to provide more specific recommendations for diagnosis and classification of blepharospasm. Data were obtained from the Dystonia Coalition for patients diagnosed with all types of isolated dystonia. The team evaluated these data to determine how examinations recorded by movement disorder specialists were used to classify blepharospasm as focal, segmental, or multifocal. Results showed much variability in expert opinion regarding the diagnosis of blepharospasm, which was often inconsistent with existing guidelines for the diagnosis and classification of focal blepharospasm. This study highlights the need for more specific guidelines, which are provided in the publication.

Defazio G, Hallett M, Berardelli A, Perlmutter JS, Berman BD, Jankovic J, Bäumer T, Comella C, Ercoli T, Ferrazzano G, Fox SH, Kim HJ, Moukheiber ES, Pirio Richardson S, Weissbach A, Gigante AF, Jinnah HA. Measurement Properties of Clinical Scales Rating the Severity of Blepharospasm: A Multicenter Observational Study. Mov Disord Clin Pract. 2022 Aug 15;9(7):949-955. doi: 10.1002/mdc3.13530. eCollection 2022 Oct.

Di Fonzo A, Albanese A, Jinnah HA. The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes. Curr Opin Neurol.. 2022 Aug 1;35(4):502-509. doi: 10.1097/WCO.0000000000001076. Epub 2022 Jul 5. PMID: 35856917; PMCID: PMC9309988.

The dystonias are a group of movement disorders characterized by uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. As new genetic causes continue to be discovered, researchers have found that these different genetic forms share unexpectedly common underlying mechanisms. In this review article, authors explore the phenotypic diversity and shared mechanisms across dystonia syndromes. They also describe how these mechanisms can give rise to motor performance dysfunctions with a clinical aspect of dystonia. Authors state that this relationship between dystonia genes could revolutionize current dystonia classification systems. In the future, these advances could have promising effects on mechanism-based therapeutic approaches.

Couto B, Martinez-Valbuena I, Lee S, Alfradique-Dunham I, Perrin RJ, Perlmutter JS, Cruchaga C, Kim A, Visanji N, Sato C, Rogaeva E, Lang AE, Kovacs GG. Protracted course progressive supranuclear palsy. Eur J Neurol. 2022 Aug;29(8):2220-2231. doi: 10.1111/ene.15346. Epub 2022 Apr 21.

Reid EW, Nobriga CV. Reid EW. Clin Linguist Phon. 2022 Jul 12:1-16. doi: 10.1080/02699206.2022.2096483. Online ahead of print.

Scorr LM, Cho HJ, Kilic-Berkmen G, McKay JL, Hallett M, Klein C, Baumer T, Berman BD, Feuerstein JS, Perlmutter JS, Berardelli A, Ferrazzano G, Wagle-Shukla A, Malaty IA, Jankovic J, Bellows ST, Barbano RL, Vidailhet M, Roze E, Bonnet C, Mahajan A, LeDoux MS, Fung VSC, Chang FCF, Defazio G, Ercoli T, Factor S, Wojno T, Jinnah HA. Clinical Features and Evolution of Blepharospasm: A Multicenter International Cohort and Systematic Literature Review. Dystonia. 2022;1:10359. doi: 10.3389/dyst.2022.10359. Epub 2022 May 16. PMID: 36248010; PMCID: PMC9557246.

Panyakaew P, Jinnah HA, Shaikh AG. Clinical features, pathophysiology, treatment, and controversies of tremor in dystonia. J Neurol Sci. 2022 Apr 15;435:120199. doi: 10.1016/j.jns.2022.120199. Epub 2022 Feb 22. PMID: 35259651.

Dystonia is a general term for a group of movement disorders characterized by uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. Dystonia is a rare disorder, but it often coexists with a more common disorder, tremor. The reasons for the frequent co-occurrence of dystonia and tremor are not clear. In this review article, researchers outline the differences in definitions, subtypes, and pathophysiology of dystonia and tremor. They outline some controversial topics, such as whether these two problems share a similar pathophysiology.

Hauser RA, Meyer JM, Factor SA, Comella CL, Tanner CM, Xavier RM, Caroff SN, Lundt L. Differentiating tardive dyskinesia: a video-based review of antipsychotic-induced movement disorders in clinical practice. CNS Spectr. 2022 Apr;27(2):208-217. doi: 10.1017/S109285292000200X. Epub 2020 Nov 20.

Zhang Z, Cisneros E, Lee HY, Vu JP, Chen Q, Benadof CN, Whitehill J, Rouzbehani R, Sy DT, Huang JS, Sejnowski TJ, Jankovic J, Factor S, Goetz CG, Barbano RL, Perlmutter JS, Jinnah HA, Berman BD, Richardson SP, Stebbins GT, Comella CL, Peterson DA. Hold that pose: capturing cervical dystonia's head deviation severity from video. Ann Clin Transl Neurol. 2022 Mar 25. doi: 10.1002/acn3.51549. Epub ahead of print. PMID: 35333449.

Cervical dystonia (CD) is a movement disorder resulting in characteristic, sustained, or tremor-like involuntary muscle contractions of the neck. It is characterized by excessive pulling of the muscles of the neck and shoulder, which causes the head to turn or tilt involuntarily. Typically, head posture severity is quantified with clinical rating scales that are susceptible to variability, reducing their sensitivity as outcome measures. Previously used objective methods require specialized equipment and have been limited to studies with a small number of cases. In this study, researchers evaluated a novel software system—the Computational Motor Objective Rater (CMOR)—to quantify multi-axis directionality and severity of head posture in CD using only conventional video camera recordings. They found that CMOR’s metrics for head posture severity correlated with clinical rating scales. Authors note that CMOR’s reliance upon only conventional video recordings supports its future potential for large-scale multisite clinical trials.

Vu JP, Cisneros E, Lee HY, Le L, Chen Q, Guo XA, Rouzbehani R, Jankovic J, Factor S, Goetz CG, Barbano RL, Perlmutter JS, Jinnah HA, Pirio Richardson S, Stebbins GT, Elble R, Comella CL, Peterson DA. Head tremor in cervical dystonia: Quantifying severity with computer vision. J Neurol Sci. 2022 Mar 15;434:120154. doi: 10.1016/j.jns.2022.120154. Epub 2022 Jan 22.

Dinasarapu AR, Sutcliffe DJ, Seifar F, Visser JE, Jinnah HA. Abnormalities of neural stem cells in Lesch-Nyhan disease. J Neurogenet. 2022 Mar-Jun;36(2-3):81-87. doi: 10.1080/01677063.2022.2129632. Epub 2022 Oct 13.

Del Bene VA, Crawford JL, Gómez-Gastiasoro A, Vannorsdall TD, Buchholz A, Ojeda N, Harris JC, Jinnah HA, Schretlen DJ. Microstructural white matter abnormalities in Lesch-Nyhan disease. Eur J Neurosci. 2022 Jan;55(1):264-276. doi: 10.1111/ejn.15512. Epub 2021 Dec 6.

Perlmutter JS. Bidding for a Grateful Patient. Narrat Inq Bioeth. 2022;12(1):7-9. doi: 10.1353/nib.2022.0003.

Kilic-Berkmen G, Pirio Richardson S, Perlmutter JS et al. Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations. Mov Disord Clin Pract. 2021 Dec 1;9(2):183-190. doi: 10.1002/mdc3.13376. PMID: 35146058; PMCID: PMC8810420.

Fagan M, Scorr L, Bernhardt D, Hess EJ, Perlmutter JS, Pardo CA, Jinnah HA. Neuropathology of blepharospasm. Exp Neurol. 2021 Dec;346:113855. doi: 10.1016/j.expneurol.2021.113855. Epub 2021 Aug 28. PMID: 34464652; PMCID: PMC8490317.

The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal repetitive movements or postures. Blepharospasm is a subtype of dystonia characterized by overactive facial muscles. Previous brain imaging studies have implied subtle structural changes in blepharospasm, but the nature of these changes is not well understood. In this study, researchers found subtle loss of cerebellar Purkinje neurons in histopathological studies of brains from blepharospasm cases. These findings are similar to those reported for subjects with cervical dystonia. “To focus on what we should be looking for in blepharospasm, we used what we learned about cervical dystonia published in 2013 in a prior funding cycle,” says H. A. Jinnah, MD, PhD, principal investigator of the DC. “Thus, the RDCRN strategy of combining similar disorders under the same research umbrella is successful in facilitating both the research questions and methodologies.”

Sedov A, Popov V, Gamaleya A, Semenova U, Tomskiy A, Jinnah HA, Shaikh AG. Pallidal neuron activity determines responsiveness to deep brain stimulation in cervical dystonia. Clin Neurophysiol. 2021 Dec;132(12):3190-3196. doi: 10.1016/j.clinph.2021.07.032. Epub 2021 Sep 27. PMID: 34627682; PMCID: PMC9195244.

Wang M, Sajobi T, Morgante F, Adler C, Agarwal P, Bäumer T, Berardelli A, Berman BD, Blumin J, Borsche M, Brashear A, Deik A, Duque K, Espay AJ, Ferrazzano G, Feuerstein J, Fox S, Frank S, Hallett M, Jankovic J, LeDoux MS, Leegwater-Kim J, Mahajan A, Malaty IA, Ondo W, Pantelyat A, Pirio-Richardson S, Roze E, Saunders-Pullman R, Suchowersky O, Truong D, Vidailhet M, Shukla AW, Perlmutter JS, Jinnah HA, Martino D. Predictive modeling of spread in adult-onset isolated dystonia: key properties and effect of tremor inclusion. European Journal of Neurology. 2021 Dec;28(12):3999-4009. doi: 10.1111/ene.15031. Epub 2021 Aug 4. PMID: 34296504; PMCID: PMC9100858.

Parra SP, Heckers SH, Wilcox WR, Mcknight CD, Jinnah HA.. The emerging neurological spectrum of AARS2-associated disorders. Parkinsonism Relat Disord. 2021 Dec;93:50-54. doi: 10.1016/j.parkreldis.2021.10.031. Epub 2021 Nov 10.

Maiti B, Rawson KS, Tanenbaum AB, Koller JM, Snyder AZ, Campbell MC, Earhart GM, Perlmutter JS. Functional Connectivity of Vermis Correlates with Future Gait Impairments in Parkinson's Disease. Mov Disord. 2021 Nov;36(11):2559-2568. doi: 10.1002/mds.28684. Epub 2021 Jun 10.

Defazio G, Jinnah HA, Berardelli A, Perlmutter JS, Berkmen GK, Berman BD, Jankovic J, Bäumer T, Comella C, Cotton AC, Ercoli T, Ferrazzano G, Fox S, Kim HJ, Moukheiber ES, Richardson SP, Weissbach A, Wrigth LJ, Hallett M. Diagnostic criteria for blepharospasm: A multicenter international study. Parkinsonism Relat Disord. 2021 Oct;91:109-114. doi: 10.1016/j.parkreldis.2021.09.004. Epub 2021 Sep 8. PMID: 34583301.

Blepharospasm (BSP) is a form of focal dystonia that manifests with eyelid spasms, involuntary eyelid closures, and spontaneous blinking. To date, there are no widely accepted criteria to diagnose BSP. In this study, researchers validate the use of new diagnostic criteria for BSP in a diverse international population. “This was a huge, multicenter effort aimed at establishing internationally acceptable diagnostic criteria for BSP,” says H. A. Jinnah, MD, PhD, principal investigator of the DC. “Such criteria did not exist before. What we do in the USA with RDCRN funding must ultimately go to the rest of the world.”

Scorr LM, Factor FA, Parra SP et al and Jinnah HA for the Dystonia Coalition Investigators. Oromandibular Dystonia: A Clinical Examination of 2,020 Cases. Front Neurol. 2021 Sep 16;12:700714. doi: 10.3389/fneur.2021.700714. PMID: 34603182; PMCID: PMC8481678.

Myers PS, Jackson JJ, Clover AK, Lessov-Schlaggar CN, Foster ER, Maiti B, Perlmutter JS, Campbell MC. Distinct progression patterns across Parkinson disease clinical subtypes. Ann Clin Transl Neurol. 2021 Aug;8(8):1695-1708. doi: 10.1002/acn3.51436. Epub 2021 Jul 26.

Megan E Wadon, Grace A Bailey, Zehra Yilmaz, Emily Hubbard, Meshari AlSaeed, Amy Robinson, Duncan McLauchlan, Richard L Barbano, Laura Marsh, Stewart A Factor, Susan H Fox, Charles H Adler, Ramon L Rodriguez, Cynthia L Comella, Stephen G Reich, William L Severt, Christopher G Goetz, Joel S Perlmutter, Hyder A Jinnah, Katharine E Harding, Cynthia Sandor, Kathryn J Peall. Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia. Wiley Online Library. 2021 Aug;11(8):e2292. doi: 10.1002/brb3.2292. Epub 2021 Jul 21. PMID: 34291595; PMCID: PMC8413761.

Adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD) is a disorder characterized by involuntary muscle contractions that cause repetitive movements or abnormal postures. These movements can be painful and cause considerable disability. Although patients most commonly present to clinical services due to their motor symptoms, increasing evidence suggests a significant non-motor phenotype to be associated with most forms of dystonia, including AOIFCD. Improved understanding of these non-motor symptoms is needed to better target therapeutic interventions. In this study, researchers examined non-motor phenotypic features to identify possible AOIFCD subgroups. Non-motor symptoms were assessed in participants with AOIFCD, including psychiatric symptoms, pain, sleep disturbance, and quality of life. To investigate the relationship between these symptoms and determine phenotypic subgroups, researchers used Cluster and Bayesian multiple mixed model phenotype analyses. They identified two phenotypic subgroups of non-motor symptoms accompanying AOIFCD, with differences in psychiatric symptoms, pain catastrophizing, sleep quality, and quality of life. Researchers say that improved understanding of these symptom groups will enable better targeted pathophysiological investigation and future therapeutic intervention.

Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Krämer UM, Neis M, Bäumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kühn AA, Borngräber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA. A Multi-center Genome-wide Association Study of Cervical Dystonia. Mov Disord. 2021 Jul 28. doi: 10.1002/mds.28732. Online ahead of print.

Cervical dystonia is a painful condition in which a patient’s neck muscles contract involuntarily, causing the head to twist or turn to one side. In this multi-center international study, researchers conducted a Genome-Wide Association Study (GWAS) using samples from the Dystonia Coalition Biorepository. They compared 919 cervical dystonia patients with 1491 controls, seeking to identify genetic loci—fixed positions on a chromosome where a particular gene or genetic marker is located—related to the disorder. They identified one genome-wide significant variant that was however not replicated in an independent sample of 473 cervical dystonia cases and 481 controls. Gene-based analysis identified DENND1A to be significantly associated with cervical dystonia. One low-frequency variant located within the GABBR2 gene on chromosome 9 was associated with lower age-at-onset. Authors concluded that the genetic underpinnings of cervical dystonia are heterogeneous and likely consist of multiple distinct variants of small effect sizes, rather than one gene that is responsible for many cases. Larger GWAS sample sizes may be needed to understand the genetic causes of cervical dystonia.

Cisneros E, Vu JP, Lee HY et al. Does raising the arms modify head tremor severity in cervical dystonia?. Tremor and Other Hyperkinetic Movements. 2021 Jun 23;11:21. doi: 10.5334/tohm.623. PMID: 34221696; PMCID: PMC8231450.

Thakur N, Klopstock T, Jackowski S, Kuscer E, Tricta F, Videnovic A, Jinnah HA. Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration. Mov Disord. 2021 Sep;36(9):2005-2016. doi: 10.1002/mds.28642. Epub 2021 May 18.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurogenetic disorder in which specific regions of the central nervous system progressively degenerate, causing progressive, abnormal, involuntary movements. PKAN is caused by genetic variants in the PANK2 gene that result in dysfunction in enzyme activity. This disruption allows iron to accumulate in the brain. Increased understanding of the molecular and biochemical mechanisms of the disease has allowed researchers to use these insights to begin designing new therapeutics for the disorder. Study authors review the results of recent clinical trials and pre-clinical studies of several compounds currently being evaluated. They say that these trials have helped improve trial designs and allowed the development of PKAN-specific measures to monitor outcomes. They conclude that PKAN provides a good model for targeted drug development and clinical trial design for rare disorders.

Vu JP, Lee HY, Chen Q, Cisneros E, Barbano RL, Goetz CG, Jankovic J, Jinnah HA, Perlmutter JS, Berman BD, Appelbaum MI, Stebbins GT, Comella CL, Peterson DA. Head tremor and pain in cervical dystonia. J Neurol. 2021 May;268(5):1945-1950. doi: 10.1007/s00415-020-10378-5. Epub 2021 Jan 8.

To determine how head tremor and pain are associated with cervical dystonia, researchers undertook a retrospective review of severity and pain rating scales from 188 patients. They examined associations of head trauma and pain with age at onset, disease duration, and head tremor subtype, finding that head tremor severity was associated with longer disease duration while pain severity was associated with younger age at onset. Researchers said these associations further characterize the heterogeneity of cervical dystonia’s clinical presentation and suggest similarly heterogenous underlying mechanisms.

Sutcliffe DJ, Dinasarapu AR, Visser JE, Hoed JD, Seifar F, Joshi P, Ceballos-Picot I, Sardar T, Hess EJ, Sun YV, Wen Z, Zwick ME, Jinnah HA. Induced pluripotent stem cells from subjects with Lesch-Nyhan disease. Sci Rep. 2021 Apr 19;11(1):8523. doi: 10.1038/s41598-021-87955-9.

Kilic-Berkmen G, Wright LJ, Perlmutter JS, Comella C, Hallett M, Teller J, Pirio Richardson S, Peterson DA, Cruchaga C, Lungu C, Jinnah HA. The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies. Front Neurol. 2021 Apr 8;12:660909. doi: 10.3389/fneur.2021.660909. PMID: 33897610; PMCID: PMC8060489.

Sedov A, Usova S, Popov V, Tomskiy A, Jinnah HA, Shaikh AG. Feedback-dependent neuronal properties make focal dystonias so focal. Eur J Neurosci. 2021 Apr;53(7):2388-2397. doi: 10.1111/ejn.14933. Epub 2020 Aug 31.

Seeking to better understand the neuron activity responsible for dystonia, researchers tested the hypothesis that focal dystonia (a condition that causes abnormal movements in a single body part) may be associated with specific vs broad neuronal abnormalities. They measured the activity of individual neurons of the basal ganglia during deep brain stimulation surgery in 12 patients with dystonia limited to the neck. They found abnormal neuronal activity for both neck and hand neurons, even though the hand was unaffected. These results imply abnormalities of neuronal activity are not restricted to neurons associated with the affected body region, but appear to be more widespread. Symptoms may appear in only in specific body regions, such as the neck, when a second abnormality is added, such as sensory feedback from the affected region.

Martin WRW, Miles M, Zhong Q, Hartlein J, Racette BA, Norris SA, Ushe M, Maiti B, Criswell S, Davis AA, Kotzbauer PT, Cairns NJ, Perrin RJ, Perlmutter JS. Is Levodopa Response a Valid Indicator of Parkinson's Disease?. Mov Disord. 2021 Apr;36(4):948-954. doi: 10.1002/mds.28406. Epub 2020 Nov 30.

Visser JE, Cotton AC, Schretlen DJ, Bloch J, Tedroff K, Schechtmann G, Radu Djurfeldt D, Gonzalez V, Cif L, Jinnah HA. Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective. Dev Med Child Neurol. 2021 Mar 10. doi: 10.1111/dmcn.14852. Online ahead of print.

Younce JR, Campbell MC, Hershey T, Tanenbaum AB, Milchenko M, Ushe M, Karimi M, Tabbal SD, Kim AE, Snyder AZ, Perlmutter JS, Norris SA. Resting-State Functional Connectivity Predicts STN DBS Clinical Response. Mov Disord. 2021 Mar;36(3):662-671. doi: 10.1002/mds.28376. Epub 2020 Nov 19.

Groth CL, Brown M, Honce JM et al. Cervical Dystonia Is Associated with Aberrant Inhibitory Signaling Within the Thalamus. Front Neurol. 2021 Feb 9;11:575879. doi: 10.3389/fneur.2020.575879. PMID: 33633655; PMCID: PMC7900407.

Junker J, Berman BD, Hall J, Wahba DW, Brandt V, Perlmutter JS, Jankovic J, Malaty IA, Wagle Shukla A, Reich SG, Espay AJ, Duque KR, Patel N, Roze E, Vidailhet M, Jinnah HA, Brüggemann N. Quality of life in isolated dystonia: non-motor manifestations matter. J Neurol Neurosurg Psychiatry. 2021 Feb 9; jnnp-2020-325193. doi: 10.1136/jnnp-2020-325193. Online ahead of print. PMCID: PMC8356023.

Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA. Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort. Neurology. 2021 Jan 26;96(4):e563-e574. doi: 10.1212/WNL.0000000000011049. Epub 2020 Oct 12.

Cisneros E, Stebbins GT, Chen Q, Vu JP, Benadof CN, Zhang Z, Barbano RL, Fox SH, Goetz CG, Jankovic J, Jinnah HA, Perlmutter JS, Adler CH, Factor SA, Reich SG, Rodriguez R, Severt LL, Stover NP, Berman BD, Comella CL, Peterson DA. It's tricky: Rating alleviating maneuvers in cervical dystonia. J Neurol Sci. 2020 Dec 15;419:117205. doi: 10.1016/j.jns.2020.117205. Epub 2020 Nov 1.

Norris SA, Jinnah HA, Klein C, Jankovic J, Berman BD, Roze E, Mahajan A, Espay AJ, Murthy AV, Fung VSC, LeDoux MS, Chang FCF, Vidailhet M, Testa C, Barbano R, Malaty IA, Bäumer T, Loens S, Wright LJ, Perlmutter JS. Clinical and Demographic Characteristics of Upper Limb Dystonia. Mov Disord. 2020 Nov;35(11):2086-2090. doi: 10.1002/mds.28223. Epub 2020 Aug 26.

Mahmood M, Kwon S, Berkmen GK, Kim YS, Scorr L, Jinnah HA, Yeo WH. Soft Nanomembrane Sensors and Flexible Hybrid Bioelectronics for Wireless Quantification of Blepharospasm. IEEE Trans Biomed Eng. 2020 Nov;67(11):3094-3100. doi: 10.1109/TBME.2020.2975773. Epub 2020 Feb 21.

Norris SA, Morris AE, Campbell MC, Karimi M, Adeyemo B, Paniello RC, Snyder AZ, Petersen SE, Mink JW, Perlmutter JS. Regional, not global, functional connectivity contributes to isolated focal dystonia. Neurology. 2020 Oct 20;95(16):e2246-e2258. doi: 10.1212/WNL.0000000000010791. Epub 2020 Sep 10.

Laura LO Froeschke. The Influence of Linguistic Demand on Symptom Expression in Adductor Spasmodic Dysphonia. Journal of Voice. 2020 Sep;34(5):807.e11-807.e21. doi: 10.1016/j.jvoice.2019.04.003. Epub 2019 Apr 30. PMID: 31047737.

Sedov A, Usova S, Semenova U, Gamaleya A, Tomskiy A, Beylergil SB, Jinnah HA, Shaikh AG. Pallidal Activity in Cervical Dystonia with and Without Head Tremor. Cerebellum. 2020 Jun;19(3):409-418. doi: 10.1007/s12311-020-01119-5.

Jinnah HA. Medical and Surgical Treatments for Dystonia. Neurol Clin. 2020 May;38(2):325-348. doi: 10.1016/j.ncl.2020.01.003. Epub 2020 Mar 2.

Berman BD, Groth CL, Shelton E, Sillau SH, Sutton B, Legget KT, Tregellas JR. Hemodynamic responses are abnormal in isolated cervical dystonia. J Neurosci Res. 2020 Apr;98(4):692-703. doi: 10.1002/jnr.24547. Epub 2019 Nov 6.

Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Roze E, Jinnah HA, Perlmutter JS. Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):314-320. doi: 10.1136/jnnp-2019-321794. Epub 2019 Dec 17.

Chen Q, Vu JP, Cisneros E, Benadof CN, Zhang Z, Barbano RL, Goetz CG, Jankovic J, Jinnah HA, Perlmutter JS, Appelbaum MI, Stebbins GT, Comella CL, Peterson DA. Postural Directionality and Head Tremor in Cervical Dystonia. Tremor Other Hyperkinet Mov (N Y). 2020 Jan 20;10. doi: 10.7916/tohm.v0.745. eCollection 2020.

Liu C, Scorr L, Kilic-Berkmen G, Cotton A, Factor SA, Freeman A, Tran V, Liu K, Uppal K, Jones D, Jinnah HA, Sun YV. A metabolomic study of cervical dystonia. Parkinsonism Relat Disord. 2021 Jan;82:98-103. doi: 10.1016/j.parkreldis.2020.11.020. Epub 2020 Nov 26. PMID: 33271463; PMCID: PMC7856090.

Cervical dystonia is the most common adult-onset focal dystonia. Researchers currently believe that cervical dystonia may be caused by a combination of genetic and environmental factors. Although genetic factors have been studied extensively, other factors have not. To identify potentially abnormal metabolites or altered biological pathways, researchers conducted an exploratory metabolomics analysis of cervical dystonia. The team compared plasma samples from 100 idiopathic cervical dystonia patients and 100 controls. Results showed that altered biological pathways may relate to carbohydrate and lipid metabolism. Study authors say this may provide novel insights into the biology of cervical dystonia.

Fernandez HH, Stamler D, Davis MD, Factor SA, Hauser RA, Jimenez-Shahed J, Ondo WG, Jarskog LF, Woods SW, Bega D, LeDoux MS, Shprecher DR, Anderson KE. Long-term safety and efficacy of deutetrabenazine for the treatment of tardive dyskinesia. J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1317-1323. doi: 10.1136/jnnp-2018-319918. Epub 2019 Jul 10.

Kwon YT, Lee Y, Berkmen GK, Lim HR, Scorr L, Jinnah HA, Yeo WH. Soft Material-Enabled, Active Wireless, Thin-Film Bioelectronics for Quantitative Diagnostics of Cervical Dystonia. Adv Mater Technol. 2019 Oct;4(10):1900458. doi: 10.1002/admt.201900458. Epub 2019 Aug 16.

Beylergil SB, Singh AP, Zee DS, Jinnah HA, Shaikh AG. Relationship between jerky and sinusoidal oscillations in cervical dystonia. Parkinsonism Relat Disord. 2019 Sep;66:130-137. doi: 10.1016/j.parkreldis.2019.07.024. Epub 2019 Jul 20.

Mencacci NE and Jinnah HA. Naming Genes for Dystonia: DYT-z or Ditzy?. Tremor Other Hyperkinet Mov. 2019 Aug 28;9. doi: 10.7916/tohm.v0.710. PMID: 31523486; PMCID: PMC6714488.

Kim CY, Petersen MS, Eliasen EH et al. Involuntary Thumb Flexion on Neurological Examination: An Unusual Form of Upper Limb Dystonia in the Faroe Islands. Tremor Other Hyperkinet Mov. 2019 Aug 20;9. doi: 10.7916/tohm.v0.686. PMID: 31440418; PMCID: PMC6702791.

Merola A, Dwivedi AK, Shaikh AG, Tareen TK, Da Prat GA, Kauffman MA, Hampf J, Mahajan A, Marsili L, Jankovic J, Comella CL, Berman BD, Perlmutter JS, Jinnah HA, Espay AJ. Head tremor at disease onset: an ataxic phenotype of cervical dystonia. J Neurol. 2019 Aug;266(8):1844-1851. doi: 10.1007/s00415-019-09341-w. Epub 2019 Apr 26.

Jinnah HA. The Dystonias. Continuum (Minneap Minn). 2019 Aug;25(4):976-1000. doi: 10.1212/CON.0000000000000747.

Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Burns C, Swett LL, Revicki DA, Bender RH, Lenderking WR.. Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration. Orphanet J Rare Dis. 2019 Jul 12;14(1):174. doi: 10.1186/s13023-019-1142-1.

Benadof CN, Cisneros E, Appelbaum MI, Stebbins GT, Comella CL, Peterson DA. Sensory Tricks Are Associated with Higher Sleep-Related Quality of Life in Cervical Dystonia. Tremor Other Hyperkinet Mov (N Y). 2019 Jun 17;9. doi: 10.7916/4q53-vt23. eCollection 2019.

Tang SY, Shaikh AG. Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia. Cerebellum. 2019 Jun;18(3):556-564. doi: 10.1007/s12311-018-0990-x.

Corp DT, Joutsa J, Darby RR, Delnooz CCS, van de Warrenburg BPC, Cooke D, Prudente CN, Ren J, Reich MM, Batla A, Bhatia KP, Jinnah HA, Liu H, Fox MD. Network localization of cervical dystonia based on causal brain lesions. Brain. 2019 Jun 1;142(6):1660-1674. doi: 10.1093/brain/awz112.

Sedov A, Usova S, Semenova U, Gamaleya A, Tomskiy A, Crawford JD, Corneil B, Jinnah HA, Shaikh AG. The role of pallidum in the neural integrator model of cervical dystonia. Neurobiol Dis. 2019 May;125:45-54. doi: 10.1016/j.nbd.2019.01.011. Epub 2019 Jan 22.

Sedov A, Semenova U, Usova S et al. Implications of asymmetric neural activity patterns in the basal ganglia outflow in the integrative neural network model for cervical dystonia. Prog Brain Res. 2019;249:261-268. doi: 10.1016/bs.pbr.2019.03.030. Epub 2019 Apr 30. PMID: 31325985.

Feldman D, Otero-Millan J, Shaikh AG. Gravity-Independent Upbeat Nystagmus in Syndrome of Anti-GAD Antibodies. Cerebellum. 2019 Apr;18(2):287-290. doi: 10.1007/s12311-018-0972-z.

Witek N, Hebert C, Gera A, Comella C. Progressive Encephalomyelitis with Rigidity and Myoclonus Syndrome Presenting as Catatonia. Psychosomatics. 2019 Jan-Feb;60(1):83-87. doi: 10.1016/j.psym.2018.05.005. Epub 2018 May 17. PMID: 30143326.

Pyatka N, Sedov A, Walter BL et al. Tremor in chronic inflammatory demyelinating polyneuropathy: Proof of unifying network model for dystonia. Prog Brain Res. 2019; 249: 285-294. PMCID: In progress.

Wagle Shukla A, Ostrem JL, Vaillancourt DE et al. Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. J Neurol Neurosurg Psychiatry. 2018 Dec;89(12):1296-1300. doi: 10.1136/jnnp-2017-317098. Epub 2018 Jan 11. PMID: 29326293; PMCID: PMC7498178.

Junker J, Brandt V, BD B, Vidailhet M et al. Predictors of alcohol responsiveness in dystonia. Neurology . 2018 Nov 20;91(21):e2020-e2026. doi: 10.1212/WNL.0000000000006551. Epub 2018 Oct 19. PMID: 30341158; PMCID: PMC6260199.

Ludlow CL, Domangue R, Sharma D, Jinnah HA, Perlmutter JS, Berke G, Sapienza C, Smith ME, Blumin JH, Kalata CE, Blindauer K, Johns M, Hapner E, Harmon A, Paniello R, Adler CH, Crujido L, Lott DG, Bansberg SF, Barone N, Drulia T, Stebbins G. Consensus-Based Attributes for Identifying Patients With Spasmodic Dysphonia and Other Voice Disorders. JAMA Otolaryngol Head Neck Surg. 2018 Aug 1;144(8):657-665. doi: 10.1001/jamaoto.2018.0644.

George EB, Cotton AC, Shneyder N, Jinnah HA. A strategy for managing flu-like symptoms after botulinum toxin injections. J Neurol. 2018 Aug;265(8):1932-1933. doi: 10.1007/s00415-018-8934-4. Epub 2018 Jun 20.

Rizvi MT, Cameron L, Kilbane C, Shaikh AG. Paraneoplastic seesaw nystagmus and opsoclonus provides evidence for hyperexcitable reciprocally innervating mesencephalic network. J Neurol Sci. 2018 Jul 15;390:239-245. doi: 10.1016/j.jns.2018.05.002. Epub 2018 May 3.

Espay AJ, Trosch R, Suarez G et al. Minimal clinically important change in the Toronto Western Spasmodic Torticollis Rating Scale. Parkinsonism Relat Disord. 2018 Jul;52:94-97. doi: 10.1016/j.parkreldis.2018.03.002. Epub 2018 Mar 7. PMID: 29530726.

Shaikh AG, Antoniades C, Fitzgerald J et al. Effects of deep brain stimulation on eye movements and vestibular function. Front Neurol. 2018 Jun 12;9:444. doi: 10.3389/fneur.2018.00444. PMID: 29946295; PMCID: PMC6005881.

Jinnah HA, Comella CL, Perlmutter J, Lungu C, Hallett M; Dystonia Coalition Investigators. Longitudinal studies of botulinum toxin in cervical dystonia: Why do patients discontinue therapy?. Toxicon. 2018 Jun 1;147:89-95. doi: 10.1016/j.toxicon.2017.09.004. Epub 2017 Sep 6.

Shaikh AG, Zee DS. Eye movement research in the twenty-first century-a window to the brain, mind, and more. Cerebellum. 2018 Jun;17(3):252-258. doi: 10.1007/s12311-017-0910-5. PMID: 29260439.

Norris SA, Perlmutter JS. Functional imaging in dystonia. In Treatment of Dystonia, ed Dressler, Altenmuller, & Krauss, Cambridge University Press, Cambridge, UK. June 2018, ISBN: 9781107132863. [Chapter]

Liu H, Jin H, Luo Z, Yue X, Zhang X, Flores H, Su Y, Perlmutter JS, Tu Z. In Vivo Characterization of Two (18)F-Labeled PDE10A PET Radioligands in Nonhuman Primate Brains. ACS Chem Neurosci. 2018 May 16;9(5):1066-1073. doi: 10.1021/acschemneuro.7b00458. Epub 2018 Feb 19.

Mahajan A, Jankovic J, Marsh L, Patel A, Jinnah HA, Comella C, Barbano R, Perlmutter J, Patel N; members of the Dystonia Coalition. Cervical dystonia and substance abuse. J Neurol. 2018 Apr;265(4):970-975. doi: 10.1007/s00415-018-8840-9. Epub 2018 Mar 22.

Scorr LM, Silver MR, Hanfelt J, Sperin E, Freeman A, Jinnah HA, Factor SA. Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. Neurotherapeutics. 2018 Apr;15(2):452-458. doi: 10.1007/s13311-018-0620-9.

Shi LL, Simpson CB, Hapner ER, Jinnah HA, Johns MM 3rd. Pharyngeal Dystonia Mimicking Spasmodic Dysphonia. J Voice. 2018 Mar;32(2):234-238. doi: 10.1016/j.jvoice.2017.05.004. Epub 2017 Jun 23.

Morris AE, Norris SA, Perlmutter JS, Mink JW. Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia. Mov Disord. 2018 Mar;33(3):449-458. doi: 10.1002/mds.27298. Epub 2018 Feb 20.

Popa T, Hubsch C, James P et al. Abnormal cerebellar processing of the neck proprioceptive information drives dysfunctions in cervical dystonia. Nat Sci Rep. 2018 Feb 2;8(1):2263. doi: 10.1038/s41598-018-20510-1. PMID: 29396401; PMCID: PMC5797249.

Espay AJ, Maloney T, Vannest J et al. Dysfunction in emotion processing underlies functional (psychogenic) dystonia. Mov Disord. 2018 Jan;33(1):136-145. doi: 10.1002/mds.27217. Epub 2017 Nov 10. PMID: 29124784; PMCID: PMC5767134.

Jinnah HA, Hess EJ. Evolving concepts in the pathogenesis of dystonia. Parkinsonism Relat Disord. 2018 Jan;46 Suppl 1(Suppl 1):S62-S65. doi: 10.1016/j.parkreldis.2017.08.001. Epub 2017 Aug 2.

Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders. Treatable inherited rare movement disorders. Mov Disord. 2018 Jan;33(1):21-35. doi: 10.1002/mds.27140. Epub 2017 Sep 1.

Cotton AC, Bell RB, Jinnah HA. Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example. JIMD Rep. 2018;41:25-27. doi: 10.1007/8904_2017_80. Epub 2017 Dec 15. PMID: 29243037; PMCID: PMC6122048.

Jinnah HA, Hess EJ. The motor network model for dystonia. In Treatment of dystonia: Cambridge University Press, 1st ED. 2018. [Book chapter]

Kang SL, Shaikh AG, Ghasia FF. Vergence and strabismus in neurodegenerative disorders. Front Neurol. 2018; 9: 299. PMCID: PMC5964131.

Puri S, Shaikh AG. Basic and translational neuro-ophthalmology of visually guided saccades: disorders of velocity. Expert Rev Ophthalmol. 2017;12(6):457-473. doi: 10.1080/17469899.2017.1395695. Epub 2017 Nov 28.

Shaikh AG, Finkelstein SR, Schuchard R, Ross G, Juncos JL. Fixational eye movements in Tourette syndrome. Neurol Sci. 2017 Nov;38(11):1977-1984. doi: 10.1007/s10072-017-3069-4. Epub 2017 Aug 16.

Jinnah HA, Neychev V, Hess EJ. The anatomical basis for dystonia: The motor network model. Tremor Other Hyperkinet Mov (N Y). 2017 Oct 23;7:506. doi: 10.7916/D8V69X3S. PMID: 29123945; PMCID: PMC5673689.

Alsinaidi O, Shaikh AG. Diffusion-Weighted Magnetic Resonance Imaging in Acute Retinal Pathology. Neuroophthalmology. 2017 Oct 13;42(3):191-193. doi: 10.1080/01658107.2017.1354385. eCollection 2018 Jun.

Conte A, Ferrazzano G, Defazio G et al. Increased blinking may be a precursor of blepharospasm: a longitudinal study. Mov Disord Clin Pract. 2017 Sep-Oct;4(5):733-736. doi: 10.1002/mdc3.12499. Epub 2017 Jun 2. PMID: 29082270; PMCID: PMC5654574.

Shaikh AG, Factor SA, Juncos J. Saccades in progressive supranuclear palsy - maladapted, irregular, curved, and slow. Mov Disord Clin Pract. 2017 Sep-Oct;4(5):671-681. doi: 10.1002/mdc3.12491. Epub 2017 Aug 11.

Li Z, Prudente CN, Stilla R, Sathian K, Jinnah HA, Hu X. Alterations of resting-state fMRI measurements in individuals with cervical dystonia. Hum Brain Mapp. 2017 Aug;38(8):4098-4108. doi: 10.1002/hbm.23651. Epub 2017 May 15.

Shaikh AG, Ghasia FF. Novel Eye Movement Disorders in Whipple's Disease-Staircase Horizontal Saccades, Gaze-Evoked Nystagmus, and Esotropia. Front Neurol. 2017 Jul 11;8:321. doi: 10.3389/fneur.2017.00321. eCollection 2017.

Berman BD, Junker J, Shelton E, Sillau SH, Jinnah HA, Perlmutter JS, Espay AJ, Jankovic J, Vidailhet M, Bonnet C, Ondo W, Malaty IA, Rodríguez R, McDonald WM, Marsh L, Zurowski M, Bäumer T, Brüggemann N. Psychiatric associations of adult-onset focal dystonia phenotypes. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):595-602. doi: 10.1136/jnnp-2016-315461. Epub 2017 Apr 24.

Shaikh AG, Straumann D, Palla A. Motion Illusion-Evidence towards Human Vestibulo-Thalamic Projections. Cerebellum. 2017 Jun;16(3):656-663. doi: 10.1007/s12311-017-0844-y.

Sedov A, Popov V, Shabalov V, Raeva S, Jinnah HA, Shaikh AG. Physiology of midbrain head movement neurons in cervical dystonia. Mov Disord. 2017 Jun;32(6):904-912. doi: 10.1002/mds.26948. Epub 2017 Feb 20.

Pirio Richardson S, Altenmüller E, Alter K, Alterman RL, Chen R, Frucht S, Furuya S, Jankovic J, Jinnah HA, Kimberley TJ, Lungu C, Perlmutter JS, Prudente CN, Hallett M. Research Priorities in Limb and Task-Specific Dystonias. Front Neurol. 2017 May 3;8:170. doi: 10.3389/fneur.2017.00170. eCollection 2017.

Kang S, Shaikh AG. Acquired pendular nystagmus. J Neurol Sci. 2017 Apr 15;375:8-17. doi: 10.1016/j.jns.2017.01.033. Epub 2017 Jan 10.

Shaikh AG, Ghasia FF. Fixational saccades are more disconjugate in adults than in children. PLoS One. 2017 Apr 13;12(4):e0175295. doi: 10.1371/journal.pone.0175295. eCollection 2017.

Defazio G, Hallett M, Jinnah HA, Conte A, Berardelli A. Blepharospasm 40 years later. Mov Disord. 2017 Apr;32(4):498-509. doi: 10.1002/mds.26934. Epub 2017 Feb 10.

Shakkottai VG, Batla A, Bhatia K, Dauer WT, Dresel C, Niethammer M, Eidelberg D, Raike RS, Smith Y, Jinnah HA, Hess EJ, Meunier S, Hallett M, Fremont R, Khodakhah K, LeDoux MS, Popa T, Gallea C, Lehericy S, Bostan AC, Strick PL. Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia. Cerebellum. 2017 Apr;16(2):577-594. doi: 10.1007/s12311-016-0825-6.

Jinnah HA, Alterman R, Klein C, Krauss JK, Moro E, Vidailhet M, Raike R. Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm (Vienna). 2017 Apr;124(4):417-430. doi: 10.1007/s00702-016-1656-9. Epub 2017 Feb 3.

Nibbeling EA, Delnooz CC, de Koning TJ, Sinke RJ, Jinnah HA, Tijssen MA, Verbeek DS. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis. Neurosci Biobehav Rev. 2017 Apr;75:22-39. doi: 10.1016/j.neubiorev.2017.01.033. Epub 2017 Jan 28.

Peterson DA, Sejnowski TJ. A Dynamic circuit hypothesis for the pathogenesis of blepharospasm. Front Comput Neurosci. 2017 Mar 7;11:11. doi: 10.3389/fncom.2017.00011. PMID: 28326032; PMCID: PMC5340098.

Pirio Richardson S, Wegele A, Skipper B et al. Dystonia treatment: patterns of medication use in an international cohort. Neurology. 2017 Feb 7;88(6):543-550. doi: 10.1212/WNL.0000000000003596. Epub 2017 Jan 11. PMID: 28077492; PMCID: PMC5304465.

Shaikh AG, Zee DS, Crawford JD et al. Reply: Contributions of visual and motor signals in cervical dystonia. Brain. 2017 Jan;140(1):e5. doi: 10.1093/brain/aww292. Epub 2016 Dec 19. PMID: 27993889.

Norris SA, Jinnah HA, Espay AJ, Klein C, Brüggemann N, Barbano RL, Malaty IA, Rodriguez RL, Vidailhet M, Roze E, Reich SG, Berman BD, LeDoux MS, Richardson SP, Agarwal P, Mari Z, Ondo WG, Shih LC, Fox SH, Berardelli A, Testa CM, Cheng FC, Truong D, Nahab FB, Xie T, Hallett M, Rosen AR, Wright LJ, Perlmutter JS. Clinical and demographic characteristics related to onset site and spread of cervical dystonia. Mov Disord. 2016 Dec;31(12):1874-1882. doi: 10.1002/mds.26817. Epub 2016 Oct 18.

Paudel R, Li A, Hardy J, Bhatia KP, Houlden H, Holton J. DYT6 Dystonia: A Neuropathological Study. Neurodegener Dis. 2016;16(3-4):273-8. doi: 10.1159/000440863. Epub 2015 Nov 27.

Peterson DA, Littlewort GC, Bartlett MS, Macerollo A, Perlmutter JS, Jinnah HA, Hallett M, Sejnowski TJ. Objective, computerized video-based rating of blepharospasm severity. Neurology. 2016 Nov 15;87(20):2146-2153. doi: 10.1212/WNL.0000000000003336. Epub 2016 Oct 21. PMID: 27770067; PMCID: PMC5109937.

Albanese A, Bhatia K, DeLong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Mink JW, Teller JK. "Complex" dystonia is not a category in the new 2013 consensus classification. Mov Disord. 2016 Nov;31(11):1758-1759. doi: 10.1002/mds.26764. Epub 2016 Sep 10.

Bologna M, Paparella G, Fabbrini A, Leodori G, Rocchi L, Hallett M, Berardelli A. Effects of cerebellar theta-burst stimulation on arm and neck movement kinematics in patients with focal dystonia. Clin Neurophysiol. 2016 Nov;127(11):3472-3479. doi: 10.1016/j.clinph.2016.09.008. Epub 2016 Sep 15.

Jinnah HA. Locus Pocus. Mov Disord. 2016 Nov;31(11):1759-1760. doi: 10.1002/mds.26765. Epub 2016 Aug 22.

Shaikh AG, Zee DS, Crawford JD, Jinnah HA. Cervical dystonia: a neural integrator disorder. Brain. 2016 Oct;139(Pt 10):2590-2599. doi: 10.1093/brain/aww141. Epub 2016 Jun 20.

Jinnah HA, Factor S. The role of polymyography in the treatment of cervical dystonia: the authors reply. J Neurol. 2016 Aug;263(8):1665. doi: 10.1007/s00415-016-8222-0. Epub 2016 Jul 8.

Arkadir D, Radulescu A, Raymond D et al. DYT1 dystonia increases risk taking in humans. eLife. 2016 Jun 1;5:e14155. doi: 10.7554/eLife.14155. PMID: 27249418; PMCID: PMC4951192.

Jinnah HA, Goodmann E, Rosen AR, Evatt M, Freeman A, Factor S. Botulinum toxin treatment failures in cervical dystonia: causes, management, and outcomes. J Neurol. 2016 Jun;263(6):1188-94. doi: 10.1007/s00415-016-8136-x. Epub 2016 Apr 25.

Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.

LeDoux MS, Vemula SR, Xiao J, Thompson MM, Perlmutter JS, Wright LJ, Jinnah HA, Rosen AR, Hedera P, Comella CL, Weissbach A, Junker J, Jankovic J, Barbano RL, Reich SG, Rodriguez RL, Berman BD, Chouinard S, Severt L, Agarwal P, Stover NP. Clinical and genetic features of cervical dystonia in a large multicenter cohort. Neurol Genet. 2016 Apr 11;2(3):e69. doi: 10.1212/NXG.0000000000000069. eCollection 2016 Jun.

Bäumer T, Schmidt A, Heldmann M, Landwehr M, Simmer A, Tönniges D, Münte T, Lohmann K, Altenmüller E, Klein C, Münchau A. Abnormal interhemispheric inhibition in musician's dystonia - Trait or state?. Parkinsonism Relat Disord. 2016 Apr;25:33-8. doi: 10.1016/j.parkreldis.2016.02.018. Epub 2016 Feb 20.

Comella CL, Perlmutter JS, Jinnah HA, Waliczek TA, Rosen AR, Galpern WR, Adler CA, Barbano RL, Factor SA, Goetz CG, Jankovic J, Reich SG, Rodriguez RL, Severt WL, Zurowski M, Fox SH, Stebbins GT. Clinimetric testing of the comprehensive cervical dystonia rating scale. Mov Disord. 2016 Apr;31(4):563-9. doi: 10.1002/mds.26534. Epub 2016 Mar 12.

Xiao J, Thompson MM, Vemula SR et al. Blepharospasm in a multiplex African-American pedigree. J Neurol Sci. 2016 Mar 15;362:299-303. doi: 10.1016/j.jns.2016.02.003. Epub 2016 Feb 2. PMID: 26944167; PMCID: PMC4779500.

Fraint A, Vittal P, Comella C. Considerations on patient-related outcomes with the use of botulinum toxins: is switching products safe?. Ther Clin Risk Manag. 2016 Feb 5;12:147-54. doi: 10.2147/TCRM.S99239. PMID: 26917963; PMCID: PMC4751901.

Justicz N, Hapner ER, Josephs JS, Boone BC, Jinnah HA, Johns MM 3rd. Comparative effectiveness of propranolol and botulinum for the treatment of essential voice tremor. Laryngoscope. 2016 Jan;126(1):113-7. doi: 10.1002/lary.25485. Epub 2015 Jul 21.

Shaikh AG, Ghasia FF, DeLong MR, Jinnah HA, Freeman A, Factor SA. Ocular palatal tremor plus dystonia - new syndromic association. Mov Disord Clin Pract. 2015 Sep 1;2(3):267-270. doi: 10.1002/mdc3.12193. Epub 2015 Jun 17.

Creighton FX, Hapner E, Klein A, Rosen A, Jinnah HA, Johns MM. Diagnostic Delays in Spasmodic Dysphonia: A Call for Clinician Education. J Voice. 2015 Sep;29(5):592-4. doi: 10.1016/j.jvoice.2013.10.022. Epub 2015 Apr 11.

Ludlow CL. Central Nervous System Control of Voice and Swallowing. J Clin Neurophysiol. 2015 Aug;32(4):294-303. doi: 10.1097/WNP.0000000000000186.

Ludlow CL. Laryngeal Reflexes: Physiology, Technique, and Clinical Use. J Clin Neurophysiol. 2015 Aug;32(4):284-93. doi: 10.1097/WNP.0000000000000187.

Jinnah HA, Teller JK, Galpern WR. Recent developments in dystonia. Curr Opin Neurol. 2015 Aug;28(4):400-5. doi: 10.1097/WCO.0000000000000213.

Kimberley TJ, Schmidt RL, Chen M et al. Mixed effectiveness of rTMS and retraining in the treatment of focal hand dystonia. Front Hum Neurosci. 2015 Jul 9;9:385. doi: 10.3389/fnhum.2015.00385. PMID: 26217209; PMCID: PMC4496570.

Prudente CN, Stilla R, Buetefisch CM, Singh S, Hess EJ, Hu X, Sathian K, Jinnah HA. Neural Substrates for Head Movements in Humans: A Functional Magnetic Resonance Imaging Study. J Neurosci. 2015 Jun 17;35(24):9163-72. doi: 10.1523/JNEUROSCI.0851-15.2015.

Comella CL, Fox SH, Bhatia KP, Perlmutter JS, Jinnah HA, Zurowski M, McDonald WM, Marsh L, Rosen AR, Waliczek T, Wright LJ, Galpern WR, Stebbins GT. Development of the Comprehensive Cervical Dystonia Rating Scale: Methodology. Mov Disord Clin Pract. 2015 Jun;2(2):135-141. doi: 10.1002/mdc3.12131. Epub 2015 Apr 6.

Berman BD, Jinnah HA. Dystonia: Five new things. Neurol Clin Pract. 2015 Jun;5(3):232-240. doi: 10.1212/CPJ.0000000000000128.

Shaikh AG, Wong A, Zee DS, Jinnah HA. Why are voluntary head movements in cervical dystonia slow?. Parkinsonism Relat Disord. 2015 Jun;21(6):561-6. doi: 10.1016/j.parkreldis.2015.03.005. Epub 2015 Mar 14.

Shaikh AG, Zee DS, Jinnah HA. Oscillatory head movements in cervical dystonia: Dystonia, tremor, or both?. Mov Disord. 2015 May;30(6):834-42. doi: 10.1002/mds.26231. Epub 2015 Apr 16.

Pirio Richardson S, Tinaz S, Chen R. Repetitive transcranial magnetic stimulation in cervical dystonia: effect of site and repetition in a randomized pilot trial. PLoS One. 2015 Apr 29;10(4):e0124937. doi: 10.1371/journal.pone.0124937. PMID: 25923718; PMCID: PMC4414555.

Defazio G, Hallett M, Jinnah HA, Stebbins GT, Gigante AF, Ferrazzano G, Conte A, Fabbrini G, Berardelli A. Development and validation of a clinical scale for rating the severity of blepharospasm. Mov Disord. 2015 Apr;30(4):525-30. doi: 10.1002/mds.26156.

Yan L, Hicks M, Winslow K, Comella C, Ludlow C, Jinnah HA, Rosen AR, Wright L, Galpern WR, Perlmutter JS. Secured web-based video repository for multicenter studies. Parkinsonism Relat Disord. 2015 Apr;21(4):366-71. doi: 10.1016/j.parkreldis.2015.01.011. Epub 2015 Jan 20.

Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon YY, Zittel S, Wächter T, Deuschl G, Krüger R, Kupsch A, Münchau A, Lohmann K, Volkmann J, Klein C. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology. 2015 Mar 3;84(9):895-903. doi: 10.1212/WNL.0000000000001312. Epub 2015 Feb 4.

Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H. Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging. 2015 Feb;36(2):1221.e1-6. doi: 10.1016/j.neurobiolaging.2014.08.024. Epub 2014 Aug 27.

Jinnah HA, Factor SA. Diagnosis and treatment of dystonia. Neurol Clin. 2015 Feb;33(1):77-100. doi: 10.1016/j.ncl.2014.09.002.

Shaikh AG, Mewes K, DeLong MR, Gross RE, Triche SD, Jinnah HA, Boulis N, Willie JT, Freeman A, Alexander GE, Aia P, Butefisch CM, Esper CD, Factor SA. Temporal profile of improvement of tardive dystonia after globus pallidus deep brain stimulation. Parkinsonism Relat Disord. 2015 Feb;21(2):116-9. doi: 10.1016/j.parkreldis.2014.11.013. Epub 2014 Nov 20.

Tanner CM, Comella CL. When brawn benefits brain: physical activity and Parkinson's disease risk. Brain. 2015 Feb;138(Pt 2):238-9. doi: 10.1093/brain/awu351.

Karimi M, Perlmutter JS. The role of dopamine and dopaminergic pathways in dystonia: insights from neuroimaging. Tremor Other Hyperkinet Mov (N Y). 2015 Jan 29;5:280. doi: 10.7916/D8J101XV. eCollection 2015.

Jinnah HA, Prudente CN, Rose SJ et al. The neurobiology of dystonia. In Neurobiology of Disease, 2nd Ed. 2015. [Chapter]

Jinnah HA, Albanese A. The New Classification System for the Dystonias: Why Was it Needed and How was it Developed?. Mov Disord Clin Pract. 2014 Dec 1;1(4):280-284. doi: 10.1002/mdc3.12100.

Perlmutter JS, Norris SA. Neuroimaging biomarkers for Parkinson disease: facts and fantasy. Ann Neurol. 2014 Dec;76(6):769-83. doi: 10.1002/ana.24291. Epub 2014 Nov 7.

Luciano AY, Jinnah HA, Pfeiffer RF, Truong DD, Nance MA, LeDoux MS. Treatment of myoclonus-dystonia syndrome with tetrabenazine. Parkinsonism Relat Disord. 2014 Dec;20(12):1423-6. doi: 10.1016/j.parkreldis.2014.09.029. Epub 2014 Oct 5.

Paudel R, Kiely A, Li A, Lashley T, Bandopadhyay R, Hardy J, Jinnah HA, Bhatia K, Houlden H, Holton JL. Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. Acta Neuropathol Commun. 2014 Nov 18;2:159. doi: 10.1186/s40478-014-0159-x.

Shaikh AG, Mewes K, Jinnah HA, DeLong MR, Gross RE, Triche S, Freeman A, Factor SA. Globus pallidus deep brain stimulation for adult-onset axial dystonia. Parkinsonism Relat Disord. 2014 Nov;20(11):1279-82. doi: 10.1016/j.parkreldis.2014.09.005. Epub 2014 Sep 16.

Hershey LA, Perlmutter JS. Smoking and Parkinson disease: where there is smoke there may not be fire. Neurology. 2014 Oct 14;83(16):1392-3. doi: 10.1212/WNL.0000000000000896. Epub 2014 Sep 12.

Patel N, Hanfelt J, Marsh L, Jankovic J; members of the Dystonia Coalition. Alleviating manoeuvres (sensory tricks) in cervical dystonia. J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):882-4. doi: 10.1136/jnnp-2013-307316. Epub 2014 May 14.

Broccard FD, Mullen T, Chi YM, Peterson D, Iversen JR, Arnold M, Kreutz-Delgado K, Jung TP, Makeig S, Poizner H, Sejnowski T, Cauwenberghs G. Closed-loop brain-machine-body interfaces for noninvasive rehabilitation of movement disorders. Ann Biomed Eng. 2014 Aug;42(8):1573-93. doi: 10.1007/s10439-014-1032-6. Epub 2014 May 15.

Xiao J, Vemula SR, LeDoux MS. Recent advances in the genetics of dystonia. Curr Neurol Neurosci Rep. 2014 Aug;14(8):462. doi: 10.1007/s11910-014-0462-8.

Göttle M, Prudente CN, Fu R, Sutcliffe D, Pang H, Cooper D, Veledar E, Glass JD, Gearing M, Visser JE, Jinnah HA. Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease. Ann Neurol. 2014 Jul;76(1):95-107. doi: 10.1002/ana.24191. Epub 2014 Jun 20.

Revuelta GJ, Montilla J, Benatar M, Freeman A, Wichmann T, Jinnah HA, Delong MR, Factor SA. An ¹⁸F-FDG PET study of cervical muscle in parkinsonian anterocollis. J Neurol Sci. 2014 May 15;340(1-2):174-7. doi: 10.1016/j.jns.2014.03.023. Epub 2014 Mar 18.

Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzińska M, Momčilović D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med. 2014 May;2(3):261-72. doi: 10.1002/mgg3.67. Epub 2014 Feb 11.

Vemula SR, Xiao J, Bastian RW, Momčilović D, Blitzer A, LeDoux MS. Pathogenic variants in TUBB4A are not found in primary dystonia. Neurology. 2014 Apr 8;82(14):1227-30. doi: 10.1212/WNL.0000000000000294. Epub 2014 Mar 5.

Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Reply: dystonia after severe head injuries. Mov Disord. 2014 Apr;29(4):578-9. doi: 10.1002/mds.25861. Epub 2014 Mar 3.

Prudente CN, Hess EJ, Jinnah HA. Dystonia as a network disorder: what is the role of the cerebellum?. Neuroscience. 2014 Feb 28;260:23-35. doi: 10.1016/j.neuroscience.2013.11.062. Epub 2013 Dec 11.

Fregosi RF, Ludlow CL. Activation of upper airway muscles during breathing and swallowing. J Appl Physiol (1985). 2014 Feb 1;116(3):291-301. doi: 10.1152/japplphysiol.00670.2013. Epub 2013 Oct 3.

Galpern WR, Coffey CS, Albanese A, Cheung K, Comella CL, Ecklund DJ, Fahn S, Jankovic J, Kieburtz K, Lang AE, McDermott MP, Shefner JM, Teller JK, Thompson JL, Yeatts SD, Jinnah HA. Designing clinical trials for dystonia. Neurotherapeutics. 2014 Jan;11(1):117-27. doi: 10.1007/s13311-013-0221-6.

Comella CL. Treatment of restless legs syndrome. Neurotherapeutics. 2014 Jan;11(1):177-87. doi: 10.1007/s13311-013-0247-9.

Jinnah HA, Albanese A. New concepts for dystonia. Moving Along: The Official Newsletter of the International Parkinson and Movement Disorder Society. 2014; 18: 6-7. [Feature article]

Tiderington E, Goodman EM, Rosen AR, Hapner ER, Johns MM 3rd, Evatt ML, Freeman A, Factor S, Jinnah HA. How long does it take to diagnose cervical dystonia?. J Neurol Sci. 2013 Dec 15;335(1-2):72-4. doi: 10.1016/j.jns.2013.08.028. Epub 2013 Aug 30.

Marsh L. Depression and Parkinson's disease: current knowledge. Curr Neurol Neurosci Rep. 2013 Dec;13(12):409. doi: 10.1007/s11910-013-0409-5.

Ceballos-Picot I, Augé F, Fu R, Olivier-Bandini A, Cahu J, Chabrol B, Aral B, de Martinville B, Lecain JP, Jinnah HA. Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase. Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8.

Khooshnoodi MA, Factor SA, Jinnah HA. Secondary blepharospasm associated with structural lesions of the brain. J Neurol Sci. 2013 Aug 15;331(1-2):98-101. doi: 10.1016/j.jns.2013.05.022. Epub 2013 Jun 6.

Peterson DA, Berque P, Jabusch HC, Altenmüller E, Frucht SJ. Rating scales for musician's dystonia: the state of the art. Neurology. 2013 Aug 6;81(6):589-98. doi: 10.1212/WNL.0b013e31829e6f72. Epub 2013 Jul 24.

Defazio G, Hallett M, Jinnah HA, Berardelli A. Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology. 2013 Jul 16;81(3):236-40. doi: 10.1212/WNL.0b013e31829bfdf6. Epub 2013 Jun 14.

Moscovich M, LeDoux MS, Xiao J, Rampon GL, Vemula SR, Rodriguez RL, Foote KD, Okun MS. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report. BMC Med Genet. 2013 Jul 13;14:70. doi: 10.1186/1471-2350-14-70.

Shaikh AG, Wong AL, Zee DS, Jinnah HA. Keeping your head on target. J Neurosci. 2013 Jul 3;33(27):11281-95. doi: 10.1523/JNEUROSCI.3415-12.2013.

Hubsch C, Roze E, Popa T, Russo M, Balachandran A, Pradeep S, Mueller F, Brochard V, Quartarone A, Degos B, Vidailhet M, Kishore A, Meunier S. Defective cerebellar control of cortical plasticity in writer's cramp. Brain. 2013 Jul;136(Pt 7):2050-62. doi: 10.1093/brain/awt147. PMID: 23801734; PMCID: PMC3692031.

Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. Mov Disord. 2013 Jun 15;28(7):889-98. doi: 10.1002/mds.25549.

Albanese A, Sorbo FD, Comella C, Jinnah HA, Mink JW, Post B, Vidailhet M, Volkmann J, Warner TT, Leentjens AF, Martinez-Martin P, Stebbins GT, Goetz CG, Schrag A. Dystonia rating scales: critique and recommendations. Mov Disord. 2013 Jun 15;28(7):874-83. doi: 10.1002/mds.25579.

Lohmann K, Klein C. Genetics of dystonia: What's known? What's new? What's next?. Mov Disord. 2013 Jun 15;28(7):899-905. doi: 10.1002/mds.25536. PMID: 23893446.

Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013 Jun 15;28(7):863-73. doi: 10.1002/mds.25475. Epub 2013 May 6.

Zurowski M, McDonald WM, Fox S, Marsh L. Psychiatric comorbidities in dystonia: emerging concepts. Mov Disord. 2013 Jun 15;28(7):914-20. doi: 10.1002/mds.25501.

Mink JW. Special concerns in defining, studying, and treating dystonia in children. Mov Disord. 2013 Jun 15;28(7):921-5. doi: 10.1002/mds.25548.

Jinnah HA, Delong MR, Hallett M. The dystonias: past, present, and future. Mov Disord. 2013 Jun 15;28(7):849-50. doi: 10.1002/mds.25564.

Jinnah HA, Berardelli A, Comella C, Defazio G, Delong MR, Factor S, Galpern WR, Hallett M, Ludlow CL, Perlmutter JS, Rosen AR; Dystonia Coalition Investigators. The focal dystonias: current views and challenges for future research. Mov Disord. 2013 Jun 15;28(7):926-43. doi: 10.1002/mds.25567.

Klein C, Fahn S. Translation of Oppenheim's 1911 paper on dystonia. Mov Disord. 2013 Jun 15;28(7):851-62. doi: 10.1002/mds.25546. PMID: 23893442. [Translation from German]

Prudente CN, Pardo CA, Xiao J, Hanfelt J, Hess EJ, Ledoux MS, Jinnah HA. Neuropathology of cervical dystonia. Exp Neurol. 2013 Mar;241:95-104. doi: 10.1016/j.expneurol.2012.11.019. Epub 2012 Nov 27.

Popa T, Velayudhan B, Hubsch C, Pradeep S, Roze E, Vidailhet M, Meunier S, Kishore A. Cerebellar processing of sensory inputs primes motor cortex plasticity. Cereb Cortex. 2013 Feb;23(2):305-14. doi: 10.1093/cercor/bhs016. Epub 2012 Feb 20.

Ushe M, Perlmutter JS. Oromandibular and lingual dystonia associated with spinocerebellar ataxia type 8. Mov Disord. 2012 Dec;27(14):1741-2. doi: 10.1002/mds.25295.

Hedera P, Xiao J, Puschmann A, Momčilović D, Wu SW, LeDoux MS. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. BMC Neurol. 2012 Sep 18;12:93. doi: 10.1186/1471-2377-12-93.

White LJ, Hapner ER, Klein AM, Delgaudio JM, Hanfelt JJ, Jinnah HA, Johns MM 3rd. Coprevalence of anxiety and depression with spasmodic dysphonia: a case-control study. J Voice. 2012 Sep;26(5):667.e1-6. doi: 10.1016/j.jvoice.2011.08.011. Epub 2011 Dec 29.

Fleming BM, Schwab EL, Nouer SS, Wan JY, LeDoux MS. Prevalence, predictors, and perceived effectiveness of complementary, alternative and integrative medicine in adult-onset primary dystonia. Parkinsonism Relat Disord. 2012 Sep;18(8):936-40. doi: 10.1016/j.parkreldis.2012.04.027. Epub 2012 May 25.

LeDoux MS, Xiao J, Rudzińska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momčilović D, Vemula SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28.

Revuelta GJ, Benatar M, Freeman A, Wichmann T, Jinnah HA, DeLong MR, Factor SA. Clinical subtypes of anterocollis in parkinsonian syndromes. J Neurol Sci. 2012 Apr 15;315(1-2):100-3. doi: 10.1016/j.jns.2011.11.017. Epub 2011 Nov 30.

Xiao J, Uitti RJ, Zhao Y, Vemula SR, Perlmutter JS, Wszolek ZK, Maraganore DM, Auburger G, Leube B, Lehnhoff K, LeDoux MS. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol. 2012 Apr;71(4):458-69. doi: 10.1002/ana.23547. Epub 2012 Mar 23.

LeDoux MS. Dystonia: phenomenology. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1(Suppl 1):S162-4. doi: 10.1016/S1353-8020(11)70050-5.

LeDoux MS. The genetics of dystonias. Adv Genet. 2012;79:35-85. doi: 10.1016/B978-0-12-394395-8.00002-5. PMID: 22989765; PMCID: PMC4879967.

Thompson VB, Jinnah HA, Hess EJ. Convergent mechanisms in etiologically-diverse dystonias. Expert Opin Ther Targets. 2011 Dec;15(12):1387-403. doi: 10.1517/14728222.2011.641533. Epub 2011 Dec 3.

Shamim EA, Chu J, Scheider LH, Savitt J, Jinnah HA, Hallett M. Extreme task specificity in writer's cramp. Mov Disord. 2011 Sep;26(11):2107-9. doi: 10.1002/mds.23827. Epub 2011 Jun 28.

Jinnah HA, Hallett M. In the wink of an eye: nature and nurture in blepharospasm. Neurology. 2011 Aug 16;77(7):616-7. doi: 10.1212/WNL.0b013e3182299f84. Epub 2011 Jul 20.

Puschmann A, Xiao J, Bastian RW, Searcy JA, LeDoux MS, Wszolek ZK. An African-American family with dystonia. Parkinsonism Relat Disord. 2011 Aug;17(7):547-50. doi: 10.1016/j.parkreldis.2011.04.019. Epub 2011 May 20.

White LJ, Klein AM, Hapner ER, Delgaudio JM, Hanfelt JJ, Jinnah HA, Johns MM 3rd. Coprevalence of tremor with spasmodic dysphonia: a case-control study. Laryngoscope. 2011 Aug;121(8):1752-5. doi: 10.1002/lary.21872.

LeDoux MS. Animal models of dystonia: Lessons from a mutant rat. Neurobiol Dis. 2011 May;42(2):152-61. doi: 10.1016/j.nbd.2010.11.006. Epub 2010 Nov 21.

Neychev VK, Gross RE, Lehéricy S, Hess EJ, Jinnah HA. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011 May;42(2):185-201. doi: 10.1016/j.nbd.2011.01.026. Epub 2011 Feb 12.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Blitzer A, Rudzińska M, Pfeiffer RF, Le C, LeDoux MS. The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2.

Ludlow CL. Spasmodic dysphonia: a laryngeal control disorder specific to speech. J Neurosci. 2011 Jan 19;31(3):793-7. doi: 10.1523/JNEUROSCI.2758-10.2011.

Jinnah HA. Needles in haystacks: the challenges of rare diseases. Dev Med Child Neurol. 2011 Jan;53(1):6-7. doi: 10.1111/j.1469-8749.2010.03791.x.

Hess EJ, Jen JC, Jinnah HA, Benarroch EE. Neuronal voltage-gated calcium channels: brief overview of their function and clinical implications in neurology. Neurology. 2010 Sep 7;75(10):937; author reply 937-8. doi: 10.1212/WNL.0b013e3181eee9e8.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Novel THAP1 sequence variants in primary dystonia. Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca.

Cloud LJ, Jinnah HA. Treatment strategies for dystonia. Expert Opin Pharmacother. 2010 Jan;11(1):5-15. doi: 10.1517/14656560903426171.

Hess EJ, Jinnah HA. Rodent models of dystonia. In Animal models for movement disorders, LeDoux MS, Ed Elsevier Academic Press, Amsterdam. 2005. [Book chapter]