对脆性X相关震颤/共济失调综合征（FXTAS）患者的初步诊断。

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

作者信息

Hall D A, Berry-Kravis E, Jacquemont S, Rice C D, Cogswell J, Zhang L, Hagerman R J, Hagerman P J, Leehey M A

机构信息

University of Colorado Health Sciences Center, Denver, CO 80262, USA.

出版信息

Neurology. 2005 Jul 26;65(2):299-301. doi: 10.1212/01.wnl.0000168900.86323.9c.

DOI:10.1212/01.wnl.0000168900.86323.9c

PMID:16043804

Abstract

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.

摘要

脆性X相关震颤/共济失调综合征（FXTAS）是一种新描述的疾病，发生于脆性X智力低下1（FMR1）基因前突变携带者中。56例FXTAS患者之前有98次诊断：大多数属于帕金森综合征、震颤、共济失调、痴呆或中风类别。本研究及其他研究的数据被用于制定FMR1基因FXTAS诊断检测指南。