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Neurology 2002;59:1244-1246
© 2002 American Academy of Neurology
Brief Communications

Clinical findings of a myoclonus-dystonia family with two distinct mutations

D. Doheny, MS, F. Danisi, MD, C. Smith, MS, C. Morrison, PhD, M. Velickovic, MD, D. de Leon, MS, S. B. Bressman, MD, J. Leung, BS, L. Ozelius, PhD, C. Klein, MD, X. O. Breakefield, PhD, M. F. Brin, MD and J. M. Silverman, PhD

See also pages 1130, 1183, 1187, and 1241, From the Department of Neurology (Drs. Danisi, Morrison, Velickovic, Brin, and Silverman, D. Doheny and C. Smith), Mount Sinai School of Medicine, and Department of Neurology (D. de Leon and Dr. Bressman), Beth Israel Medical Center, New York, NY; Department of Neurology (J. Leung and X. Breakefield), Massachusetts General Hospital and Harvard Medical School, Charlestown, MA; Department of Molecular Genetics (Dr. Ozelius), Albert Einstein College of Medicine, Bronx, NY; and Department of Neurology (Dr. Klein), Medical University of Lübeck, Germany.

Address correspondence and reprint requests to Dana O. Doheny, MS, Department of Neurology, Mount Sinai School of Medicine, Annenberg 14-51A, Box 1052, New York, NY; e-mail: Dana.Doheny{at}mssm.edu

Myoclonus-dystonia has recently been associated with mutations in the epsilon-sarcoglycan gene (SCGE) on 7q21. Previously, the authors reported a patient with myoclonus-dystonia and an 18-bp deletion in the DYT1 gene on 9q34. The authors have now re-evaluated the patient harboring this deletion for mutations in the SGCE gene and identified a missense change. In the current study, the authors describe the clinical details of this family carrying mutations in two different dystonia genes. Further analysis of these mutations separately and together in cell culture and in animal models should clarify their functional consequences.




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