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

David J. Kwiatkowski; Torbjoern G. Nygaard; Deborah E. Schuback; Scott Perman; Joel M. Trugman; Susan B. Bressman; Robert E. Burke; Mitchell F. Brin; Laurie Ozelius; Xandra O. Breakefield; Stanley Fahn; Patricia L. Kramer

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

David J. Kwiatkowski
, Torbjoern G. Nygaard
, Deborah E. Schuback
, Scott Perman
, Joel M. Trugman
, Susan B. Bressman
, Robert E. Burke
, Mitchell F. Brin
, Laurie Ozelius
, Xandra O. Breakefield
, Stanley Fahn
, Patricia L. Kramer

Research output: Contribution to journal › Article › peer-review

39 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 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.

Original language	English
Pages (from-to)	121-128
Number of pages	8
Journal	American Journal of Human Genetics
Volume	48
Issue number	1
State	Published - Jan 1991
Externally published	Yes

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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.

@article{f70d7637b8184263a0aa9979cbf61304,

title = "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",

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 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.",

author = "Kwiatkowski, \{David J.\} and Nygaard, \{Torbjoern G.\} and Schuback, \{Deborah E.\} and Scott Perman and Trugman, \{Joel M.\} and Bressman, \{Susan B.\} and Burke, \{Robert E.\} and Brin, \{Mitchell F.\} and Laurie Ozelius and Breakefield, \{Xandra O.\} and Stanley Fahn and Kramer, \{Patricia L.\}",

year = "1991",

month = jan,

language = "English",

volume = "48",

pages = "121--128",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "1",

}

Kwiatkowski, DJ, Nygaard, TG, Schuback, DE, Perman, S, Trugman, JM, Bressman, SB, Burke, RE, Brin, MF, Ozelius, L, Breakefield, XO, Fahn, S & Kramer, PL 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, vol. 48, no. 1, pp. 121-128.

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. / Kwiatkowski, David J.; Nygaard, Torbjoern G.; Schuback, Deborah E. et al.
In: American Journal of Human Genetics, Vol. 48, No. 1, 01.1991, p. 121-128.

Research output: Contribution to journal › Article › peer-review

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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AN - SCOPUS:0026098334

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VL - 48

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EP - 128

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -