Fragile X gene premutation in multiple system atrophy

被引：22

作者：

Garland, EM

Vnencak-Jones, CL

Biaggioni, I

Davis, TL

Montine, TJ

Robertson, D

机构：

[1] Vanderbilt Univ, Auton Dysfunct Ctr, Dept Med, Nashville, TN 37232 USA

[2] Vanderbilt Univ, Dept Pharmacol, Nashville, TN 37232 USA

[3] Vanderbilt Univ, Dept Neurol, Nashville, TN 37232 USA

[4] Vanderbilt Univ, Dept Pathol, Nashville, TN 37232 USA

[5] Univ Washington, Dept Pathol, Seattle, WA 98104 USA

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2004年 / 227卷 / 01期

关键词：

multiple system atrophy; genetics; fragile X syndrome; ataxia; tremor; trinucleotide repeat expansion; orthostatic hypotension; norepinephrine;

D O I：

10.1016/j.jns.2004.08.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Previous reports have suggested that expansion of the CGG repeat located in the fragile X mental retardation 1 (FMR1) gene might be responsible for a significant number of patients with the multiple system atrophy (MSA) phenotype. Analysis of 65 MSA patients found only 4.6% displayed CGG expansions in the suspected range. This is similar to the frequency reported in the normal population, suggesting that this expansion does not play a major role in the MSA phenotype. (C) 2004 Elsevier B.V. All rights reserved.

引用

页码：115 / 118

页数：4

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