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Article

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system

1 Aug 1997

Abstract excerpt

Most patients with Friedreich's ataxia (FRDA) carry expanded GAA repeats in both homologues of the frataxin gene on chromosome 9. We determined the size of the GAA repeats in autopsied samples from the CNS of six FRDA patients. We observed heterogeneity of repeat sizes in different CNS regions, indicative of extensive mitotic instability. Samples from the same CNS subdivision (e.g., cortex, thalamus) contained a...

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Identifiers

PMID: 9270608
DOI: 10.1212/wnl.49.2.606

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Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous systemPMID 9270608Read ↗

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