Literature DB >> 15562408

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

Rajesh Sharma1, Irene De Biase, Mariluz Gómez, Martin B Delatycki, Tetsuo Ashizawa, Sanjay I Bidichandani.   

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.

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Year:  2004        PMID： 15562408     DOI： 10.1002/ana.20333

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  23 in total

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9.  Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells.

Authors:  Paul M Rindler; Sanjay I Bidichandani
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10.  Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.

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Journal:  PLoS One       Date:  2012-10-11       Impact factor: 3.240
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