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. Breakeneld, Stanley Fahn

Research output: Contribution to journalArticle

125 Citations (Scopus)

Abstract

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
Volume27
Issue number2
StatePublished - Feb 1990

Fingerprint

Dystonia Musculorum Deformans
Dystonia
Chromosomes
Gelsolin
Population
Genes
Penetrance
Argininosuccinate Synthase
Dopamine beta-Hydroxylase
Chromosomes, Human, Pair 9
Disease Susceptibility
Muscle Contraction
Nervous System Diseases
Posture
Neck
Extremities
Alleles
Mutation
DNA

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Kramer, P. L., De Leon, D., Ozelius, L., Risch, N., Bressman, S. B., Brin, M. F., ... Fahn, S. (1990). Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Annals of Neurology, 27(2), 114-120.

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. / Kramer, Patricia L.; De Leon, Deborah; Ozelius, Laurie; Risch, Neil; Bressman, Susan B.; Brin, Mitchell F.; Schuback, Deborah E.; Burke, Robert E.; Kwiatkowski, David J.; Shale, Heidi; Gusella, James F.; Breakeneld, Xandra O.; Fahn, Stanley.

In: Annals of Neurology, Vol. 27, No. 2, 02.1990, p. 114-120.

Research output: Contribution to journalArticle

Kramer, PL, De Leon, D, Ozelius, L, Risch, N, Bressman, SB, Brin, MF, Schuback, DE, Burke, RE, Kwiatkowski, DJ, Shale, H, Gusella, JF, Breakeneld, XO & Fahn, S 1990, 'Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34', Annals of Neurology, vol. 27, no. 2, pp. 114-120.
Kramer PL, De Leon D, Ozelius L, Risch N, Bressman SB, Brin MF et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Annals of Neurology. 1990 Feb;27(2):114-120.
Kramer, Patricia L. ; De Leon, Deborah ; Ozelius, Laurie ; Risch, Neil ; Bressman, Susan B. ; Brin, Mitchell F. ; Schuback, Deborah E. ; Burke, Robert E. ; Kwiatkowski, David J. ; Shale, Heidi ; Gusella, James F. ; Breakeneld, Xandra O. ; Fahn, Stanley. / Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. In: Annals of Neurology. 1990 ; Vol. 27, No. 2. pp. 114-120.
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