Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
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DOI：
10.1212/01.wnl.0000168900.86323.9c
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发表时间：
2005-07-26
期刊：
影响因子：
9.9
通讯作者：
Leehey, MA
中科院分区：
文献类型：
--
作者：
Hall, DA;Berry-Kravis, E;Leehey, MA
脆性X相关性震颤/共济失调综合征（FXTAS）是一种新描述的疾病，发生在脆性X智力低下1（FMR 1）基因的前突变携带者中。五十六例FXTAS患者被给予98项既往诊断：大多数属于帕金森综合征、震颤、共济失调、痴呆或卒中类别。本研究和其他研究的数据用于制定FXTAS的FMR 1诊断测试指南。
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.