GAA expansion size and age at onset of Friedreich’s ataxia
2003; Lippincott Williams & Wilkins; Volume: 61; Issue: 2 Linguagem: Inglês
10.1212/01.wnl.0000073537.08141.77
ISSN1526-632X
AutoresIgnacio Mateo, Javier Llorca, V. Volpini, Jordi Corral, José Berciano, Onofre Combarros,
Tópico(s)Endoplasmic Reticulum Stress and Disease
ResumoMore than 95% of patients with Friedreich ataxia (FA) are homozygous for GAA trinucleotide repeat expansions within intron 1 of the FRDA gene located on chromosome 9q13.1 A clear relation between GAA expansion size and phenotype variability has been found, and the size of the smaller GAA expansion (GAA1 allele) is the major determining factor for the variability in age at onset and rate of disease progression.2-7⇓⇓⇓⇓⇓ Conversely, the role of the larger GAA expansion (GAA2 allele) in age at onset has not been well established. We have assessed the predictive value of GAA1 and GAA2 sizes in regard to age at onset of the disease. We selected a group of 40 patients homozygous for GAA expansion on the first intron of the FRDA gene, which was determined as described previously.1 Age at onset was defined as the age at which the first neurologic symptom was …
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