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无心肌病的极晚发型弗里德赖希共济失调与X25基因中有限的GAA扩增相关。

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.

作者信息

Gellera C, Pareyson D, Castellotti B, Mazzucchelli F, Zappacosta B, Pandolfo M, Di Donato S

机构信息

Department of Biochemistry, Istituto Nazionale Neurologico C. Besta, Milan, Italy.

出版信息

Neurology. 1997 Oct;49(4):1153-5. doi: 10.1212/wnl.49.4.1153.

DOI:10.1212/wnl.49.4.1153
PMID:9339708
Abstract

Molecular analysis of spinocerebellar ataxias revealed a pathologic GAA expansion in the gene encoding frataxin in six adult patients from three families. These patients, carrying expanded alleles in the low-range size, had an exceptionally late onset and lacked cardiomyopathy, pointing to phenotypic variability of Friedreich's ataxia. Both mitotic and gametic instability of the expanded triplet repeat were present in these families.

摘要

脊髓小脑共济失调的分子分析显示，来自三个家族的6名成年患者中，编码铁调素的基因存在病理性GAA扩增。这些患者携带低范围大小的扩增等位基因，发病异常晚且无心肌病，这表明弗里德赖希共济失调存在表型变异性。这些家族中均存在扩增三联体重复的有丝分裂和配子不稳定性。

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Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.无心肌病的极晚发型弗里德赖希共济失调与X25基因中有限的GAA扩增相关。
Neurology. 1997 Oct;49(4):1153-5. doi: 10.1212/wnl.49.4.1153.
2
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Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.父母性别、出生时年龄及扩增长度影响X25基因中GAA重复序列的代际不稳定性：系谱研究及弗里德赖希共济失调患者精子分析
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