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

Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls, Massimo Pandolfo, Jörg B Schulz, Jean Pouget, Patrick Calvas, Masami Shizuka-Ikeda, Mikio Shoji, Makoto Tanaka, Louise Izatt, Christopher E Shaw, Abderrahim M'Zahem, Eimear Dunne, Pascale Bomont, Traki Benhassine, Naïma Bouslam, Giovanni Stevanin, Alexis Brice, João Guimarães, Pedro Mendonça, Clara Barbot, Paula Coutinho, Jorge Sequeiros, Alexandra Dürr, Jean-Marie Warter, Michel Koenig
Nat Genet. 2004-02-08; 36(3): 225-227
DOI: 10.1038/ng1303

PubMed
Read on PubMed



1. Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8.

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

Moreira MC(1), Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C,
Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P,
Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M’Zahem A, Dunne E, Bomont
P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot
C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M.

Author information:
(1)IGBMC (Centre National de la Recherche Scientifique, Institut National de la
Santé et de la Recherche Médicale, ULP) 67404 Illkirch, C.U. de Strasbourg,
France.

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
PMID: 14770181 [Indexed for MEDLINE]

Know more about