Magnetic resonance imaging study in older fragile X premutation male carriers

被引：44

作者：

Loesch, DZ ^{[1
]}

Litewka, L

Brotchie, P

Huggins, RM

Tassone, F

Cook, M

机构：

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

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

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

[4] Swinburne Univ Technol, Brain Res Inst, Heidelberg, Vic, Australia

[5] Australian Natl Univ, Ctr Math & Applicat, Canberra, ACT, Australia

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

来源：

ANNALS OF NEUROLOGY | 2005年 / 58卷 / 02期

关键词：

D O I：

10.1002/ana.20542

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Some carriers of a "premutation" allele of the FMR1 gene develop late-onset tremor/ataxia. We conducted a magnetic resonance imaging volumetric study in an unselected sample of eight older male premutation carriers. Volumetric measures, including total brain volume, and the volumes of cerebrum, cerebellum, and cerebral cortex all were significantly reduced in premutation carriers compared with similar data from 21 age-matched normal controls. Total brain and cerebral volumes were significantly related to the number of CGG repeats in the FMR1 gene. Moreover, increased hippocampal volume indicates this premutation may account for both neurodegenerative and neurodevelopmental changes.

引用

页码：326 / 330

页数：5

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