Dopa-responsive dystonia:: Mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa

被引：43

作者：

Steinberger, D

Korinthenberg, R

Topka, H

Berghäuser, M

Wedde, R

Müller, U

机构：

[1] Univ Giessen, Inst Human Genet, D-35392 Giessen, Germany

[2] Univ Freiburg Klinikum, Abt Neuropadiat & Muskelerkrankungen, Freiburg, Germany

[3] Univ Tubingen, Neurol Klin, D-72074 Tubingen, Germany

来源：

NEUROLOGY | 2000年 / 55卷 / 11期

关键词：

D O I：

10.1212/WNL.55.11.1735

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Analysis of the gene GCH1 in 58 patients with dystonia and a positive response to L-dopa revealed mutations in 30 individuals from 22 families. Thirteen of the mutations observed were familial, three occurred de novo, and inheritance could not be determined in six cases. There was no mutation in the promoter region of GCH1 in any patient. The doses of L-dopa given to members of the two groups were not significantly different.

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页码：1735 / 1737

页数：3

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