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NEUROLOGY 2006;67:1701-1703
© 2006 American Academy of Neurology
Brief Communications

Phenotypic homogeneity of the Huntington disease–like presentation in a SCA17 family

S. A. Schneider, MD, B.P.C. van de Warrenburg, MD, PhD, T. D. Hughes, M. Davis, PhD, M. Sweeney, PhD, N. Wood, PhD, N. P. Quinn, MD and K. P. Bhatia, MD

From the Sobell Department of Motor Neuroscience and Movement Disorders (S.A.S., B.P.C.vdW., N.P.Q., K.P.B.) Institute of Neurology, Queen Square, London, UK; Department of Neurology (B.P.C.vdW.), Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; and Department of Molecular Neuroscience (T.D.H., M.D., M.S., N.W.), Institute of Neurology, UCL, London, UK.

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

We describe clinical and genetic analysis of a family with spinocerebellar ataxia 17 (SCA17) presenting with a Huntington disease–like (HDL) syndrome. Clinically diagnosed, HD is genetically heterogeneous. Differential diagnosis includes SCA17. However, SCA17 HDL presentation has been observed only sporadically or in solitary individuals within a family. HDL phenotypic homogeneity in SCA17 has not been described. SCA17 can present with a HDL syndrome in multiple family members.

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 November 14 issue to find the title link for this article.

B.P.C. van de Warrenburg is supported by grants from the Niels Stensen Foundation and the Dr. Jan Meerwaldt Stichting. S.A.S is supported by the Brain Research Trust, UK.

Disclosure: The authors report no conflicts of interest

Received May 24, 2006. Accepted in final form July 21, 2006.




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