Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34

Patricia L. Kramer, Deborah De Leon, Laurie Ozelius, Neil Risch, Susan B. Bressman, Mitchell F. Brin, Deborah E. Schuback, Robert E. Burke, David J. Kwiatkowski, Heidi Shale, James F. Gusella, Xandra O. Breakefield, Stanley Fahn

Research output: Contribution to journalArticlepeer-review

136 Scopus citations


Idiopathic torsion dystonia (ITD) is a neurological disorder characterized by sustained muscle contractions that appear as twisting movements of the limbs, trunk, and/or neck, which can progress to abnormal postures. Most familial forms of ITD follow autosomal dominant transmission with reduced penetrance. The frequency of ITD in the Ashkenazi Jewish population is five to ten times greater than that in other groups. Recently, a gene for ITD DYT1 in a non‐Jewish kindred was located on chromosome 9q32–34, with tight linkage to the gene encoding gelsolin GSN. In the present study linkage analysis using DNA polymorphisms is used to locate a gene responsible for susceptibility to ITD in 12 Ashkenazi Jewish families. This dystonia gene exhibits close linkage with the gene encoding argininosuccinate synthetase ASS, and appears by multipoint analysis to lie in the q32–34 region of chromosome 9, a region that also contains the loci for gelsolin and dopamine‐beta‐hydroxylase. The same gene may be responsible for ITD both in the non‐Jewish kindred mentioned above and in the Ashkenazi Jewish families presented here. However, because there is substantial difference between the penetrance of the dominant allele in these two groups, two different mutations may be operating to produce susceptibility to this disease in the two groups.

Original languageEnglish (US)
Pages (from-to)114-120
Number of pages7
JournalAnnals of Neurology
Issue number2
StatePublished - Feb 1990
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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