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Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

From the Departments of Neurology (M.C.F.G., E.M.J.F., J.D.S., M.A.J.T.), Biostatistics (R.H.), and Neurogenetics (Y.L.C.L., F.B.), Academic Medical Centre, University of Amsterdam, The Netherlands; Department of Neurology (M.C.F.G.), Sint Elisabeth Hospital, Tilburg, The Netherlands; Departments of Neurology and Human Genetics (H.K., C.K.), University of Luebeck, Germany; Department of Molecular Genetics (L.J.O.), Albert Einstein College of Medicine, Bronx, NY.

Address correspondence and reprint requests to Dr. Marina A.J. de Koning-Tijssen, Department of Neurology, H2-222, Academic Medical Centre, P.O. Box 22660,1100 DD Amsterdam, The Netherlands; e-mail: M.A.Tijssen{at}amc.uva.nl

The -sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers.

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

Supported by NWO VIDI (project 016.056.333) (to M.C.F.G. and M.A.J.T.) and Medtronic (to M.C.F.G.) and by research grants from the Fritz Thyssen Foundation, the Deutsche Forschungsgemeinschaft (Kl-1134/3-1), and the Volkswagen Foundation (all to C.K.).

Disclosure: The authors report no conflicts of interest.

Received June 7, 2005. Accepted in final form November 28, 2005.

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