Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)

被引：76

作者：

Hall, DA

Berry-Kravis, E

Jacquemont, S

Rice, CD

Cogswell, J

Zhang, L

Hagerman, RJ

Hagerman, PJ

Leehey, MA

机构：

[1] Univ Colorado, Hlth Sci Ctr, Dept Neurol, Denver, CO 80262 USA

[2] Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA

[3] Rush Univ, Med Ctr, Dept Pediat, Chicago, IL 60612 USA

[4] Rush Univ, Med Ctr, Dept Biochem, Chicago, IL 60612 USA

[5] Univ Calif Davis, Inst & Dept Pediat, Med Ctr, Sacramento, CA 95616 USA

[6] Univ Calif Davis, Sch Med, Dept Biochem, Davis, CA 95616 USA

[7] Univ Calif Davis, Sch Med, Dept Mol Med, Davis, CA 95616 USA

[8] Univ Calif Davis, Sch Med, Dept Neurol, Davis, CA 95616 USA

来源：

NEUROLOGY | 2005年 / 65卷 / 02期

关键词：

D O I：

10.1212/01.wnl.0000168900.86323.9c

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.

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页码：299 / 301

页数：3

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