par Moreira, M-C;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 Bernhard;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, P;Barbot, C;Coutinho, P;Sequeiros, Jorge;Dürr, Alexandra;Warter, Jean-Marie;Koenig, Michel
Référence Nature genetics, 36, 3, page (225-227)
Publication Publié, 2004-03
;Schulz, Jörg Bernhard;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, P;Barbot, C;Coutinho, P;Sequeiros, Jorge;Dürr, Alexandra;Warter, Jean-Marie;Koenig, MichelRéférence Nature genetics, 36, 3, page (225-227)
Publication Publié, 2004-03
Article révisé par les pairs
| Résumé : | 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. |
