Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: Exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred

D. J. Kwiatkowski, T. G. Nygaard, D. E. Schuback, S. Perman, J. M. Trugman, S. B. Bressman, R. E. Burke, M. F. Brin, L. Ozelius, X. O. Breakefield, S. Fahn, P. L. Kramer

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29 Scopus citations

Abstract

Dopa-responsive dystonia is a clinical variant of idiopathic torsion dystonia that is distinguished from other forms of dystonia by the frequent cooccurrence of parkinsonism, diurnal fluctuation of symptoms, and its dramatic therapeutic response to L-dopa. Linkage of a gene causing classic dystonia in a large non-Jewish kindred (DYT1) and in a group of Ashkenazi Jewish families, to the gelsolin (GSN) and argininosuccinate synthetase (ASS) loci on chromosome 9q32-34, respectively, was recently determined. Here we report the discovery of a highly informative (GT)n repeat VNTR polymorphism within the ASS locus. Analysis of a large kindred with dopa-responsive dystonia, using this new polymorphism and conventional RFLPs for the 9q32-34 region, excludes loci in this region as a cause of this form of dystonia. This provides proof of genetic heterogeneity between classic idiopathic torsion dystonia and dopa-responsive dystonia.

Original languageEnglish (US)
Pages (from-to)121-128
Number of pages8
JournalAmerican Journal of Human Genetics
Volume48
Issue number1
StatePublished - 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Kwiatkowski, D. J., Nygaard, T. G., Schuback, D. E., Perman, S., Trugman, J. M., Bressman, S. B., Burke, R. E., Brin, M. F., Ozelius, L., Breakefield, X. O., Fahn, S., & Kramer, P. L. (1991). Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: Exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. American Journal of Human Genetics, 48(1), 121-128.