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NEUROLOGY 2007;68:522-524
© 2007 American Academy of Neurology

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

C. W. Hess, MD, D. Raymond, MS, P. de Carvalho Aguiar, MD, PhD, S. Frucht, MD, J. Shriberg, PhD, G. A. Heiman, PhD, R. Kurlan, MD, C. Klein, MD, S. B. Bressman, MD, L. J. Ozelius, PhD and R. Saunders-Pullman, MD, MPH

From Department of Neurology (C.W.H., D.R., J.S., S.B.B., R.S.-P), Beth Israel Medical Center, New York, NY; Departments of Neurology (C.W.H., S.B.B., R.S.-P.) and Molecular Genetics (P.deC.A., L.J.O.), Albert Einstein College of Medicine, New York, NY; Department of Neurology (S.F.), Columbia University Medical Center, New York, NY; School of Public Health (G.A.H.), Columbia University, New York, NY; Department of Neurology (R.K.), University of Rochester School of Medicine, Rochester, NY; and Department of Neurology (C.K.), University of Lübeck, Lübeck, Germany.

Address correspondence and reprint requests to Dr. Rachel Saunders-Pullman, Department of Neurology, PACC, Beth Israel Medical Center, Suite 5J, 10 Union Square East, New York, NY 10003; e-mail: rsaunder{at}bethisraelny.org

Although myoclonus and dystonia are the hallmarks of myoclonus-dystonia (M-D), psychiatric features, particularly obsessive-compulsive disorder and alcohol dependence, have been reported in three families linked to chromosome 7q21. As the epsilon sarcoglycan (SGCE) gene for M-D was subsequently identified, we evaluated the relationship between psychiatric features and SGCE mutations in these original and two additional families and confirm that OCD and alcohol dependence are associated with manifesting mutated SGCE.

This work was supported by the Dystonia Medical Research Foundation (R.S.P., S.B.B., L.J.O.), the Singer Foundation (R.S.P.), NIH grant NS26656 (S.B.B, L.J.O., R.S.P.), the Myoclonus Research Foundation (L.J.O., S.F.), and the Deutsche Forschungsgemeinschaft and the Volkswagen Foundation (C.K.).

Disclosure: The authors report no conflicts of interest.

Received May 31, 2006. Accepted in final form October 18, 2006.


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