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 Volume 66, Number 4, February 28, 2006
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NEUROLOGY 2006;66:599-601
© 2006 American Academy of Neurology
Brief Communications

Familial dopa-responsive cervical dystonia

S. A. Schneider, MD, M. D. Mohire, MD, I. Trender-Gerhard, MD, F. Asmus, MD, M. Sweeney, PhD, M. Davis, PhD, T. Gasser, MD, N. W. Wood, FRCP and K. P. Bhatia, FRCP

From the Sobell Department of Motor Neuroscience and Movement Disorders (S.A.S., I.T-.G., K.P.B.), Institute of Neurology, UCL, London, UK; Neurology Centre and Research (M.D.M.), Kolhapur, India; Dystonia Genetics Unit (F.A., T.G.), Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Tuebingen, Germany; Department of Molecular Neuroscience (M.S., M.D., N.W.W.), Institute of Neurology, UCL, London, UK.

Address correspondence and reprint requests to Professor Kailash P. Bhatia, Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK; e-mail: kbhatia{at}ion.ucl.ac.uk

The authors present four cases from two unrelated families with young-onset predominant cervical dystonia with a dramatic sustained response to levodopa. Onset age was 12 years (range 9 to 15). Additional symptoms included postural hand tremor and laryngeal dystonia. Genetic testing for GTP cyclohydrolase I, tyrosine hydroxylase, and sepiapterin reductase was negative. These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the February 28 issue to find the title link for this article.

S.A.S. was supported by the Eugene Brehm Bequest, United Kingdom. F.A. and T.G. were supported by a grant of the German Network for Hereditary Movement Disorders, BMBF.

Disclosure: The authors report no conflicts of interest.

Received July 8, 2005. Accepted in final form November 2, 2005.






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