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Human gene for torsion dystonia located on chromosome 9q32-q34

1989; Cell Press; Volume: 2; Issue: 5 Linguagem: Inglês

10.1016/0896-6273(89)90188-8

1097-4199

Laurie J. Ozelius, Patricia L. Kramer, Carol Moskowitz, David J. Kwiatkowski, Mitchell F. Brin, Susan Bressman, Deborah E. Schuback, Catherine T. Falk, Neil Risch, Deborah de Leon, Robert E. Burke, Jonathan L. Haines, James F. Gusella, Stanley Fahn, Xandra O. Breakefield,

Botulinum Toxin and Related Neurological Disorders

Abstract Torsion dystonia is a movement disorder of unknown etiology characterized by loss of control of voluntary movements appearing as sustained muscle contractions and/or abnormal postures. Dystonic movements can be caused by lesions in the basal ganglia, drugs, or gene defects. Several hereditary forms have been described, most of which have autosomal dominant transmission with variable expressivity. In the Ashkenazi Jewish population the defective gene frequency is about 110,000. Here, linkage analysis using polymorphic DNA and protein markers has been used to locate a gene responsible for susceptibility to dystonia in a large, non-Jewish kinship. Affected members of this family have a clinical syndrome similar to that found in the Jewish population. This dystonia gene ( ITD1 ) shows tight linkage with the gene encoding gelsolin, an actin binding protein, and appears by multipoint linkage analysis to lie in the q32–q34 region of chromosome 9 between ABO and D9S26 , a region that also contains the locus for dopamine-β-hydroxylase.