Nature Genetics
5, 386 - 391 (1993)
doi:10.1038/ng1293-386
Linkage mapping of dopa−responsive dystonia (DRD) to chromosome 14qTorbjoern G. Nygaard1, Kirk C. Wilhelmsen1, Neil J. Risch2, Deborah L. Brown3, Joel M. Trugman4, T. Conrad Gilliam5, Stanley Fahn1
& Daniel E. Weeks3
1Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032, USA
2Department of Epidemiology and Public Health, and Department of Genetics, Yale University School of Medicine, New Haven, Connecticutt 06510, USA
3Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
4Department of Neurology, University of Virginia Health Sciences Center, Charlottesville, Virginia 22908, USA
5Departments of Psychiatry, and Genetics and Development, Columbia-Presbyterian Medical Center, New York, New York 10032, USA Correspondence should be addressed to T.G.N. Dopa−responsive dystonia (DRD) is an autosomal−dominant neurological disorder which appears to result from a genetically determined deficiency of striatal dopamine. Pathological evidence suggests that this may be due to the establishment of a reduced number of dopaminergic nerve terminals in the striatum, or to an excessive reduction (pruning) of these terminals in early development. We have mapped the DRD gene to chromosome 14 by linkage analysis in 3 families with a maximum 2−point lod score of 4.67 at 8.6 centiMorgans from D14S63 maximum multipoint lod scores >6 were obtained for the intervals D14S47−D14S52 and D14S52−D14S63. The flanking loci D14S47 and D14S63 define a region of about 22 cM as containing the DRD gene.
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