Coriell Institute
Friedreich Ataxia Collection

Friedreich ataxia (FRDA OMIM #229300) is a slowly progressive ataxia that is inherited in an autosomal recessive manner. Ninety-six percent of affected individuals have a homozygous GAA triplet-repeat expansion (between 200 and 900 copies, normal is 7-20 copies) in the first intron of the FRDA gene (OMIM # 606829) while the remaining four percent of affected individuals are compound heterozygotes with a GAA expansion in one allele and another gene mutation in the other allele.

Our collection of FRDA cell lines came from fifty individuals, twenty-six of whom are affected with FRDA. There are sixteen affected females and ten affected males ranging in age from thirteen to fifty-three years. The twenty-four unaffected individuals have relatives that are affected with FRDA. Of the twenty-six affected individuals, twenty-five have known GAA repeat sizes and all are homozygous for the GAA expansion. Of the twenty-four unaffected individuals, there are twenty-two known carriers with documented GAA repeat sizes.

Many of the cell lines were collected with the assistance of the Friedreich Ataxia Research Alliance and these lines have corresponding clinical information. The parameters collected include the physical manifestations of FRDA. The clinical information is available for download in an  Excel spreadsheet .

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