Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles

Rajesh Sharma, Irene De Biase, Mariluz Gómez, Martin B. Delatycki, Tetsuo Ashizawa, Sanjay I. Bidichandani

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

Friedreich ataxia patients are homozygous for expanded GAA triplet-repeats containing 66 to 1,700 triplets. We report two patients with delayed-onset, hyperreflexia and gradually progressive disease. Both were heterozygous for large expansions and also carried alleles with 44 and 66 triplet-repeats, respectively. Due to somatic instability, 15% (GAA-44) and 75% (GAA-66) of cells contained alleles with ≥66 triplet-repeats, constituting a plausible mechanism for their mild phenotype. A sibling with a stable GAA-37 allele and a. large expansion was clinically normal. Instability of borderline alleles confers a risk for Friedreich ataxia, and the range of pathogenic alleles is broader than previously recognized.

Original languageEnglish (US)
Pages (from-to)898-901
Number of pages4
JournalAnnals of Neurology
Volume56
Issue number6
DOIs
StatePublished - Dec 2004

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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