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Diagnostic criteria for dystonia in DYT1 families

From the Department of Neurology (Drs. Bressman and Saunders–Pullman, D. Raymond, K. Wendt, and D. de Leon), Beth Israel Medical Center, New York, Departments of Neurology (Drs. Bressman and Saunders-Pullman) and Genetics (Dr. Ozelius), Albert Einstein College of Medicine, Bronx, Department of Neurology (Dr. Fahn), Columbia University College of Physicians and Surgeons, New York, NY; and Department of Genetics (Dr. Risch), Stanford University, Stanford, CA.

Address correspondence and reprint requests to Dr. Susan B. Bressman, Department of Neurology, Beth Israel Medical Center, 10 Union Square E., Suite 2R, New York, NY 10003; e-mail: sbressman{at}bethisraelny.org

Family studies of primary torsion dystonia have used the diagnostic categories of definite, probable, and possible dystonia for gene mapping and identification, but the validity of this hierarchical classification is not known. The authors assessed 147 DYT1 GAG deletion carriers and 113 blood-related noncarriers from 43 families. Only the category of definite dystonia was 100% specific. Probable dystonia, but not possible, was increased in carriers compared with noncarriers. The authors recommend that only those with definite signs of dystonia be considered affected in linkage and other genetic studies.

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