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September 1997
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volume 17 number 1 page 40
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
Laurie J. Ozelius1, Jeffrey W. Hewett1, Curtis E. Page1, Susan B. Bressman2, Patricia L. Kramer3, Christo Shalish1, Deborah de Leon2, Mitchell F. Brin5, Deborah Raymond2, David P. Corey4, Stanley Fahn2, Neil J. Risch6, Alan J. Buckler1, James F. Gusella1 & Xandra O. Breakefield1
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.
1 Molecular Neurogenetics Unit, Massachusetts General Hospital, and Departments of Neurology and Genetics and Neuroscience Program, Harvard Medical School, Boston, Massachusetts 02114, USA. 2Dystonia Clinical Research Center, Department of Neurology, Columbia Presbyterian Medical Center, New York, New York 10032, USA. 3Department of Neurology, Oregon Health Sciences University, Portland, Oregon 97201, USA. 4Howard Hughes Medical Institute, Massachusetts General Hospital and Neurobiology Department, Harvard Medical School, Boston, Massachusetts 02114, USA. 5Movement Disorders Center, Mount Sinai Hospital, New York, New York 10029, USA. 6Department of Genetics, Stanford University, Stanford, California 94305, USA. Correspondence should be addressed to L.J.O. e-mail: ozelius@helix.mgh.harvard.edu
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