Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.

@article{Michele2000AtypicalFA,
  title={Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.},
  author={Giuseppe De Michele and Alessandro Filla and Francesca Cavalcanti and Angela Tammaro and Antonella Monticelli and Luigi Pianese and Francesco Di Salle and A Perreti and Lucio Santoro and G. Caruso and Sergio Cocozza},
  journal={Neurology},
  year={2000},
  volume={54 2},
  pages={496-9}
}
We describe two sisters with early onset gait ataxia, rapid disease progression, absent or very mild dysarthria and upper limb dysmetria, retained knee jerks in one, slight to moderate peripheral nerve involvement, and diabetes. Molecular analysis showed that they are compound heterozygotes for GAA expansion and a novel exon 5a missense mutation (R165P). This mutation appears to be associated with an atypical but not milder Friedreich ataxia phenotype. 

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