Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome

被引：42

作者：

Hagerman, Randi J.

Coffey, Sarah M.

Maselli, Ricardo

Soontarapornchai, Kultida

Brunberg, James A.

Lechey, Maureen A.

Zhang, Lin

Gane, Louise W.

Fenton-Farrell, Grace

Tassone, Flora

Hagerman, Paul J.

机构：

[1] Univ Calif Davis, Davis Hlth Syst, MIND Inst, Sacramento, CA 95817 USA

[2] Univ Calif Davis, Med Ctr, Dept Pediat, Sacramento, CA 95817 USA

[3] Univ Calif Davis, Sch Med, Dept Neurol, Sacramento, CA 95817 USA

[4] Univ Calif Davis, Med Ctr, Dept Radiol, Sacramento, CA 95817 USA

[5] Univ Colorado, Hlth Sci Ctr, Dept Neurol, Denver, CO 80202 USA

[6] Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Sacramento, CA 95817 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 19期

关键词：

fragile X-associated tremor/ataxia syndrome; neuropathy; fragile X; tremor; ataxia; FMR1;

D O I：

10.1002/ajmg.a.31920

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Peripheral neuropathy is common among patients with fragile X-associated tremor ataxia syndrome (FXTAS). Four patients with FXTAS are described with neuropathy as the presenting feature, two having received a prior diagnosis of Charcot-Marie-Tooth (CMT) disease. A fifth is described with neuropathy as the only clinical feature. A functional connection between FXTAS and neuropathy has been suggested by the presence of lamin A/C in the intranuclear, neuronal and astrocytic inclusions of FXTAS, since mutations in Iamin A/C are known to give rise to an axonal form of CMT. (c) 2007 Wiley-Liss, Inc.

引用

收藏

页码：2256 / 2260

页数：5

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