Expanded GAA repeats and clinical variation in Friedreich's ataxia.

  title={Expanded GAA repeats and clinical variation in Friedreich's ataxia.},
  author={Ignacio Mateo and Javier Llorca and V{\'i}ctor Volpini and Jordi Corral and Jos{\'e} Berciano and Onofre Combarros},
  journal={Acta neurologica Scandinavica},
  volume={109 1},
INTRODUCTION One of the main features of Friedreich's ataxia (FA) is phenotypic variability that can now be explained by the molecular mechanism (GAA expansion) underlying the disease. MATERIALS AND METHODS We have analyzed genotype-phenotype correlations in a group of 40 patients homozygous for the GAA expansion. RESULTS The smaller GAA expansion (GAA1 allele) size correlated with age at onset and progression disease rate, but we found no correlation between the larger GAA expansion (GAA2… CONTINUE READING


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