Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Yoshiaki Furukawa; Mark Guttman; Steven P. Sparagana; Joel M. Trugman; Keith Hyland; Philip Wyatt; Anthony E. Lang; Guy A. Rouleau; Mitsunobu Shimadzu; Stephen J. Kish

doi:10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B

Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Yoshiaki Furukawa, Mark Guttman, Steven P. Sparagana, Joel M. Trugman, Keith Hyland, Philip Wyatt, Anthony E. Lang, Guy A. Rouleau, Mitsunobu Shimadzu, Stephen J. Kish

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59 Scopus citations

Abstract

Although it is assumed that most patients with autosomal dominant dopa- responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three-generation DRD family and conclude that a large genomic deletion in GCH1 may account for some 'mutation-negative' patients with dominantly inherited DRD.

Original language	English (US)
Pages (from-to)	517-520
Number of pages	4
Journal	Annals of Neurology
Volume	47
Issue number	4
DOIs	https://doi.org/10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B
State	Published - Apr 19 2000

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B

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title = "Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene",

abstract = "Although it is assumed that most patients with autosomal dominant dopa- responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three-generation DRD family and conclude that a large genomic deletion in GCH1 may account for some 'mutation-negative' patients with dominantly inherited DRD.",

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T1 - Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

AU - Furukawa, Yoshiaki

AU - Guttman, Mark

AU - Sparagana, Steven P.

AU - Trugman, Joel M.

AU - Hyland, Keith

AU - Wyatt, Philip

AU - Lang, Anthony E.

AU - Rouleau, Guy A.

AU - Shimadzu, Mitsunobu

AU - Kish, Stephen J.

PY - 2000/4/19

Y1 - 2000/4/19

N2 - Although it is assumed that most patients with autosomal dominant dopa- responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three-generation DRD family and conclude that a large genomic deletion in GCH1 may account for some 'mutation-negative' patients with dominantly inherited DRD.

AB - Although it is assumed that most patients with autosomal dominant dopa- responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic DNA sequencing of the gene (GCH1) coding for this enzyme fails to reveal any mutations in about 40% of DRD patients, which makes molecular genetic diagnosis difficult. We found a large heterozygous GCH1 deletion, which cannot be detected by the usual genomic DNA sequence analysis, in a three-generation DRD family and conclude that a large genomic deletion in GCH1 may account for some 'mutation-negative' patients with dominantly inherited DRD.

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Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

Abstract

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