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From the Department of Neurology (Drs. SaundersPullman and Bressman, and J. Shriberg, D. Raymond, and K. Wendt), Beth Israel Medical Center, Department of Neurology (Drs. Saunders-Pullman and Bressman), Albert Einstein College of Medicine, School of Public Health (G. Heiman), Columbia University, Molecular Genetics Department (Dr. Ozelius), Albert Einstein College of Medicine, New York, NY; Department of Neurology (Dr. Kramer and K. Schilling), Oregon Health Sciences University, Portland; Department of Neurology (Dr. Kurlan), University of Rochester School of Medicine, NY; Department of Neurology (Dr. Klein), Medical University of Lübeck, Germany; and Department of Genetics (Dr. Risch), Stanford University, Stanford, CA.
Address correspondence and reprint requests to Dr. Rachel SaundersPullman, Department of Neurology, PACC, Beth Israel Medical Center, Suite 5J, 10 Union Square East, New York, NY 10003; e-mail: rsaunder{at}bethisraelny.org
Background: Inherited myoclonusdystonia (M-D) is a disorder that is characterized primarily by myoclonic jerks and is often accompanied by dystonia. In addition to motor features, psychiatric disease is reported in some families.
Methods: To determine whether the same genetic etiology underlies both neurologic and psychiatric signs, the authors studied psychiatric symptoms in nonmanifesting carriers (NMC), noncarriers (NC), and manifesting carriers (MC) in three families demonstrating linkage of M-D to the 7q21 locus. Interviewers administered the computerized version of the Composite International Diagnostic Interview. Algorithms for the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition diagnosis of obsessivecompulsive disorder (OCD), generalized anxiety disorder, major affective disorder, alcohol abuse, alcohol dependence, drug abuse, and drug dependence were used. Rates of disorders among the MC, NMC, and NC were compared.
Results: Of 55 participating individuals, 16 were MC, 11 were NMC, and 28 were NC. The rate of OCD was greater in carriers (5/27) compared with NC (0/28) (p = 0.023). It was also greater in the symptomatic gene carriers (4/16) compared with the asymptomatic group (1/11) (p = 0.022). Alcohol dependence was increased in the symptomatic carriers (7/16) (p = 0.027), but not in the carrier group overall (7/27).
Conclusion: OCD may be associated with the DYT11 M-D gene; however, a larger sample is necessary to confirm this finding. Alcohol dependence is highly associated with expressing symptoms of M-D. This may be explained by self-medication with alcohol to improve motor symptoms of M-D.
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