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Author Notes:

Correspondence: H. A. Jinnah, MD, PhD, Emory University School of Medicine, Departments of Neurology, Human Genetics & Pediatrics, 6300 Woodruff Memorial Building, Atlanta, GA 30322, USA; Phone: 404-727-9107, Fax: 404-712-8576, Email: hjinnah@emory.edu.

Authors' Contributions: A. Berardelli: Manuscript review and critique.

C. Comella: Manuscript design, review and critique.

G. DeFazio: Collection of source data, writing portions of 1st draft, review and critique.

See publication for full list of authors' contributions.

Disclosures: C. Comella has received consulting fees from Allergan Inc., Ipsen Ltd, Medronic Incl, Merz Pharmaceuticals, and Neupathe.

G. Defazio has received honoraria for lecturing from Glaxo Smith Kline, UCB pharma, Lundbeck and Allergan.

M.R. DeLong has received consulting fees from Medtronic, Inc., Merck, Inc, and Merz Pharmaceutical, and compensation from the Dystonia Medical Research Foundation, for which he serves as Scientific Director; He serves as a Board member for the American Parkinson Disease Foundation and the Bachman-Strauss Dystonia & Parkinson Foundation, Inc. (ex-officio).

See publication for full list of disclosures.

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Research Funding:

This summary was developed in part from a series of meetings addressing the AOFD sponsored by a grant to the Dystonia Coalition from the Office of Rare Diseases Research in the National Center for Advancing Translational Sciences and the National Institute of Neurological Disorders and Stroke at the NIH (U54 NS065701).

Some support also came from private foundations (American Dystonia Association, Beat Dystonia, The Bachmann-Strauss Dystonia & Parkinson Foundation, Benign Essential Blepharospasm Research Foundation, Dystonia Europe, Dystonia Medical Research Foundation, Foundation for Dystonia Research, National Spasmodic Dysphonia Association, and National Spasmodic Torticollis Association) and Industry (Allergan Inc., Ipsen Ltd., Medtronics Inc., and Merz Pharmaceuticals).

A. Berardelli has received grants from the Italian Ministry of University, from the Benign Essential Blepharospasm Research Foundation and from Boehringer Ingelheim, Lundbeck, UCB, Allergan, and Merz Pharmaceuticals.

C. Comella. Has received research support from Allergan Inc., Merz Pharmaceuticals, Ipsen Limited, NIH, and Parkinson Disease Foundation.

G. Defazio has received funds from the Italian Ministry of University and from the Benign Essential Blepharospasm Research Foundation.

M.R. DeLong has received research grant support from the NIH and the American Parkinson Disease Association.

S. Factor has received grant support from Teva, Ceregene, Ipsen, EMD Serono, Allergan, Medtronics, Michael J. Fox Foundation, Consolidated Anti-Aging Foundation and NIH.

H. A. Jinnah has received research grant support from the NIH, the Atlanta Clinical & Translational Science Institute, the Dystonia Medical Research Foundation, the Emory University Research Council, and the Bachmann-Strauss Dystonia & Parkinson’s Foundation.

C. L. Ludlow has received research grant support from the NIH.

J. Perlmutter has received research grant support from the NIH (TH000448, NS41509, and NS075321); He also has received support from the American Academy of Neurology, the Murphy Fund, the American Parkinson Disease Association (APDA) Center for Advanced PD Reesearch at Washiington University; the Greater St. Louis Chapter of the APDA, the McDonnel Center for Higher Brain Function, and the Barnes-Jewish Hospital Foundation.

The Focal Dystonias: Current Views and Challenges for Future Research

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Journal Title:

Movement Disorders

Volume:

Volume 28, Number 7

Publisher:

, Pages 926-943

Type of Work:

Article | Post-print: After Peer Review

Abstract:

The most common forms of dystonia are those that develop in adults and affect a relatively isolated region of the body. Although these adult-onset focal dystonias are most prevalent, knowledge of their etiologies and pathogenesis has lagged behind some of the rarer generalized dystonias, where the identification of genetic defects has facilitated both basic and clinical research. This summary provides a brief review of the clinical manifestations of the adult-onset focal dystonias, focussing attention on less well-understood clinical manifestations that need further study. It also provides a simple conceptual model for the similarities and differences among the different adult-onset focal dystonias, as a rationale for lumping them together as a class of disorders while at the same time splitting them into subtypes. The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders, and for developing novel therapeutics.

Copyright information:

© 2013 Movement Disorder Society

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