Gellera C, Pareyson D, Castellotti B, Mazzucchelli F, Zappacosta B, Pandolfo M, Di Donato S
Department of Biochemistry, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
Neurology. 1997 Oct;49(4):1153-5. doi: 10.1212/wnl.49.4.1153.
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.
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。