Article
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nature genetics - 1 Mar 2004
Moreira Maria-Céu, Klur Sandra, Watanabe Mitsunori, Németh Andrea H, Le Ber Isabelle, Moniz José-Carlos, Tranchant Christine, Aubourg Patrick, Tazir Meriem, Schöls Lüdger, Pandolfo Massimo, Schulz Jörg B, Pouget Jean, Calvas Patrick, Shizuka-Ikeda Masami, Shoji Mikio, Tanaka Makoto, Izatt Louise, Shaw Christopher E, M'Zahem Abderrahim, Dunne Eimear, Bomont Pascale, Benhassine Traki, Bouslam Naïma, Stevanin Giovanni, Brice Alexis, Guimarães João, Mendonça Pedro, Barbot Clara, Coutinho Paula, Sequeiros Jorge, Dürr Alexandra, Warter Jean-Marie, Koenig Michel
Abstract excerpt
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large...
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