Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system

被引：61

作者：

Montermini, L

Kish, SJ

Jiralerspong, S

Lamarche, JB

Pandolfo, M

机构：

[1] UNIV MONTREAL,CTR RECH LOUIS CHARLES SIMARD,MONTREAL,PQ H2L 4M1,CANADA

[2] UNIV MONTREAL,NOTRE DAME HOSP,CTR RECH LOUIS CHARLES SIMARD,MONTREAL,PQ H3C 3J7,CANADA

[3] CLARKE INST PSYCHIAT,HUMAN NEUROCHEM PATHOL LAB,TORONTO,ON M5T 1R8,CANADA

[4] UNIV SHERBROOKE,CTR UNIV SANTE ESTRIE,SHERBROOKE,PQ J1K 2R1,CANADA

来源：

NEUROLOGY | 1997年 / 49卷 / 02期

关键词：

D O I：

10.1212/WNL.49.2.606

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Most patients with Friedreich's ataxia (FRDA) carry expanded GAA repeats in both homologues of the frataxin gene on chromosome 9. We determined the size of the GAA repeats in autopsied samples from the CNS of six FRDA patients. We observed heterogenity of repeat sizes in different CNS regions, indicative of extensive mitotic instability. Samples from the same CNS subdivision (e.g., cortex, thalamus) contained a similar mixture of alleles, suggesting that the pattern of repeat size mosaicism reflects the developmental history of each sample. Regional differences in repeat size could not account for the characteristic distribution of pathology in FRDA, which appears instead tu be related to the pattern or frataxin expression.

引用

页码：606 / 610

页数：5

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