Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2


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 DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.

DOI: 10.1038/ng1303

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@article{Moreira2004SenataxinTO, title={Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2}, author={Maria-C{\'e}u Moreira and Sandra Klur and Mitsunori Watanabe and Andrea H. Nemeth and Isabelle Le Ber and Jos{\'e}-Carlos Moniz and Christine Tranchant and Patrick A Aubourg and M{\'e}riem Tazir and L{\"{u}dger Sch{\"{o}ls and Massimo Pandolfo and J{\"{o}rg B. Schulz and Jean Pouget and Patrick Calvas and Masami Shizuka-Ikeda and Mikio Shoji and Makoto Tanaka and Louise Izatt and Christopher Shaw and Abderrahim M'zahem and Eimear Dunne and Pascale Bomont and Traki Benhassine and Na{\"{i}ma Bouslam and Giovanni Stevanin and Alexis Brice and Jo{\~a}o Guimar{\~a}es and Pedro Henrique Braz Mendonça and Clara Barbot and Paula Coutinho and J. Sequeiros and Alexandra D{\"{u}rr and Jean-Marie Warter and Michel Koenig}, journal={Nature Genetics}, year={2004}, volume={36}, pages={225-227} }