| Literature DB >> 14770181 |
Maria-Céu Moreira1, 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.
Abstract
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.Entities:
Mesh：
Substances：
Year: 2004 PMID： 14770181 DOI： 10.1038/ng1303
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330