Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: Novel mutations in SETX

Mutations in the Senataxin gene ( SETX ) are associated with autosomal recessive ataxia-ocular apraxia 2 (AOA2) and autosomal dominant juvenile ALS (ALS4). Here, the authors describe novel homozygous missense mutations in SETX , M274I, and R1294C, found in two siblings with ataxia, peripheral neuropathy, and increased serum α-fetoprotein level and three other siblings with heterozygous missense mutations who were neurologically asymptomatic. The results demonstrate that the double missense mutations are responsible for AOA2 but not for ALS4.