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Neurology 2003;61:244-246
© 2003 American Academy of Neurology
Brief Communications

Mutations in the {epsilon}-sarcoglycan gene found to be uncommon in seven myoclonus–dystonia families

F. Han, MD, A. E. Lang, MD, L. Racacho, BSc, D. E. Bulman, PhD and D. A. Grimes, MD

From the Ottawa Health Research Institute (Drs. Han, Bulman, and Grimes, L. Racacho), Centre for Neuromuscular Disease, University of Ottawa, and Division of Neurology (Drs. Bulman and Grimes), Department of Medicine, Ottawa Hospital, and Division of Neurology (Dr. Lang), Department of Medicine, University Health Network, Toronto Western Hospital, Ontario, Canada.

Address correspondence and reprint requests to Dr. D.A. Grimes, Ottawa Hospital, Civic Campus, 1053 Carling Ave., Ottawa, Ontario, Canada K1Y 4E9; e-mail: dagrimes{at}ottawahospital.on.ca

Myoclonus–dystonia syndrome (MDS) is a disorder for which the major cause appears to be mutations in the {epsilon}-sarcoglycan gene (SGCE). The authors have now performed mutation screening in 22 affected individuals from seven families with findings of typical MDS. A novel 5-bp deletion in exon 7 of the gene in one family and the previously reported R102X nonsense mutation in exon 3 in two other families were identified. Mutations in the SGCE gene were found in the minority of families screened in this series.




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