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NEUROLOGY 2006;67:1677-1680
© 2006 American Academy of Neurology
Brief Communications

Distal myoclonus and late onset in a large Dutch family with myoclonus–dystonia

E.M.J. Foncke, MD, M. C.F. Gerrits, MD, F. van Ruissen, PhD, F. Baas, MD, PhD, K. Hedrich, PhD, C. C. Tijssen, MD, PhD, C. Klein, MD and M. A.J. Tijssen, MD, PhD

From the Departments of Neurology (E.M.J.F., M.C.F.G., M.A.J.T.), Clinical Neurophysiology (E.M.J.F., M.C.F.G., M.A.J.T.), and Neurogenetics (F.v.R., F.B.), Academic Medical Centre, University of Amsterdam, The Netherlands; Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands (M.C.F.G., C.C.T.); and Departments of Neurology and Human Genetics, University of Lübeck, Lübeck, Germany (K.H., C.K.).

Address correspondence and reprint requests to DrJ. de Koning-Tijssen, Department of Neurology, AMC, Postbus 22660, 1100 DD Amsterdam, The Netherlands; e-mail: m.a.tijssen{at}amc.uva.nl

We report a large myoclonus–dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism.

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.

This study was supported by a research grant from NWO VIDI (project 016.056.333) (to E.M.J.F. and M.A.J.T.), from the Fritz-Thyssen-Stiftung and the Volkswagen Foundation (C.K.).

Disclosure: The authors report no conflicts of interest.

Received March 3, 2006. Accepted in final form July 19, 2006.




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