Tremor/ataxia syndrome and fragile X premutation: Diagnostic caveats

被引：15

作者：

Loesch, D. Z. ^{[1
]}

Litewka, L.

Churchyard, A.

Gould, E.

Tassone, F.

Cook, M.

机构：

[1] La Trobe Univ, Sch Psychol Sci, Melbourne, Vic 3086, Australia

[2] St Vincents Hosp, Dept Clin Neurosci & Neurol Res, Fitzroy, Vic 3065, Australia

[3] Univ Melbourne, Fitzroy, Vic 3065, Australia

[4] Univ Calif Davis, Davis, CA 95616 USA

来源：

JOURNAL OF CLINICAL NEUROSCIENCE | 2007年 / 14卷 / 03期

关键词：

fragile X; FMRI premutation carriers; tremor/ataxia; magnetic resonance imaging; neurodegeneration;

D O I：

10.1016/j.jocn.2006.01.015

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly discovered late-onset neurodegenerative disorder caused by a premutation in the FMR1 X-linked gene. We present examples of a discrepancy between obvious brain changes observed on MRI, and minimal clinical neurological manifestations in three older carriers of this premutation. This discrepancy occurred in three of nine carriers ascertained in an unbiased manner. If the systematic follow-up studies of adult carriers confirm this trend, this will have an impact on early diagnosis of neurological involvement and possible prevention. If MRI changes precede clinical manifestation of FXTAS this may explain the low detection rate of fragile X carriers among patients with neurological syndromes associated with tremor/ataxia. (C) .2006 Elsevier Ltd. All rights reserved.

引用

页码：245 / 248

页数：4

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