Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene
1997; Lippincott Williams & Wilkins; Volume: 49; Issue: 4 Linguagem: Inglês
10.1212/wnl.49.4.1153
ISSN1526-632X
AutoresCinzia Gellera, Davide Pareyson, Barbara Castellotti, Franca Mazzucchelli, B. Zappacosta, Massimo Pandolfo, Stefano Di Donato,
Tópico(s)Mitochondrial Function and Pathology
ResumoMolecular 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.
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