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

Cinzia Gellera, Davide Pareyson, Barbara Castellotti, Franca Mazzucchelli, Boris Zappacosta, Massimo Pandolfo, Stefane Di Donato

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)1153-1155
Number of pages3
JournalNeurology
Volume49
Issue number4
Publication statusPublished - Oct 1997

ASJC Scopus subject areas

  • Neuroscience(all)

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