TY - JOUR
T1 - Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus
T2 - Exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred
AU - Kwiatkowski, David J.
AU - Nygaard, Torbjoern G.
AU - Schuback, Deborah E.
AU - Perman, Scott
AU - Trugman, Joel M.
AU - Bressman, Susan B.
AU - Burke, Robert E.
AU - Brin, Mitchell F.
AU - Ozelius, Laurie
AU - Breakefield, Xandra O.
AU - Fahn, Stanley
AU - Kramer, Patricia L.
PY - 1991/1
Y1 - 1991/1
N2 - 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 nonJewish 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.
AB - 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 nonJewish 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.
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M3 - Article
C2 - 1985454
AN - SCOPUS:0026098334
SN - 0002-9297
VL - 48
SP - 121
EP - 128
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 1
ER -