The fragile-X premutation: A maturing perspective

被引：360

作者：

Hagerman, PJ

Hagerman, RJ

机构：

[1] Univ Calif Davis, Sch Med, Dept Biochem & Mol Med, Davis, CA 95616 USA

[2] Univ Calif Davis, Med Ctr, Med Invest Neurodev Disorders Inst, Sacramento, CA 95817 USA

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

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2004年 / 74卷 / 05期

关键词：

D O I：

10.1086/386296

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one ( or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ovarian failure; and a newly described, neurodegenerative disorder of older adult carriers, fragile-X-associated tremor/ataxia syndrome (FXTAS). Awareness of these clinical presentations is important for proper diagnosis and therapeutic intervention, not only among families with known cases of fragile-X syndrome but also more broadly for adults with tremor, gait ataxia, and parkinsonism who are seen in movement-disorders clinics.

引用

页码：805 / 816

页数：12

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