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.
Original language | English |
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Pages (from-to) | 1153-1155 |
Number of pages | 3 |
Journal | Neurology |
Volume | 49 |
Issue number | 4 |
Publication status | Published - Oct 1997 |
ASJC Scopus subject areas
- Neuroscience(all)