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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1212/wnl.49.4.1153 | DOI Listing |
Publication Analysis
Top Keywords
late onset
8
friedreich's ataxia
8
gaa expansion
8
onset friedreich's
4
ataxia cardiomyopathy
4
cardiomyopathy associated
4
associated limited
4
limited gaa
4
expansion x25
4
x25 gene
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!