Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia

Author(s): Bove, C. M., Ozelius, L. J., Hallett, M., Charness, M. E., Hochberg, F. H., Breakefield, X. O.

Journal/Book: Movement Disord. 1996; 11: 227 East Washington Sq, Philadelphia, PA 19106. Raven Press. 163-166.

Abstract: Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 99 were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). The founder haplotype associated with > 90% of cases of generalized dystonia in the Ashkenazi Jewish population could not be constructed from any of the twenty chromosomes. Potential haplotypes were determined, and no common haplotype was discerned in these patients. These findings argue against a role for the founder mutation in the DYTI gene in the etiology of occupational hand dystonia in this ethnic group. Further, if the DYTI gene is involved in these later onset dystonias, there is no evidence for a common mutation in the Ashkenazic Jewish population. It appears that excessive, repetitive use, possibly in combination with ulnar neuropathy, may serve as the inciting cause of some focal dystonias.

Note: Article XO Breakefield, Massachusetts Gen Hosp East, Molec Neurogenet Unit, Bldg 149, 13TH St, Boston, MA 02129 USA

Keyword(s): hand dystonia; DYT1 locus; musician's cramp; writer's cramp; genetics of dystonia; AUTOSOMAL DOMINANT INHERITANCE; TORSION DYSTONIA; DNA POLYMORPHISMS; JEWS; GENE; FAMILY; MAP

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