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Neurology 2003;60:1988-1990
© 2003 American Academy of Neurology
Brief Communications

Hereditary myoclonus–dystonia associated with epilepsy

E. M.J. Foncke, MD, C. Klein, MD, J. H.T.M. Koelman, MD PhD, P. L. Kramer, PhD, K. Schilling, MS, B. Müller, MD, J. Garrels, BS, P. de Carvalho Aguiar, MD, L. Liu, BS, A. de Froe, MD, J. D. Speelman, MD PhD, L. J. Ozelius, PhD and M. A.J. Tijssen, MD PhD

From the Department of Neurology (Drs. Foncke, Koelman, Speelman, and Tijssen), Academic Medical Centre, University of Amsterdam, and Epilepsy Centre "de Klokkenberg" (Dr. de Froe), Breda, the Netherlands; Departments of Neurology and Human Genetics (Drs. Klein and Müller, J. Garrels), Medical University of Luebeck, Germany; and Department of Neurology (Dr. Kramer, K. Schilling), Oregon Health Science University, Portland, and Department of Molecular Genetics (Drs. de Carvalho Aguiar and Ozelius, L. Liu), Albert Einstein College of Medicine, Bronx, NY.

Address correspondence and reprint requests to Dr. M.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

A five-generation Dutch family with inherited myoclonus–dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the {epsilon}-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities were associated with the symptoms of myoclonus and dystonia. The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D.




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