| 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. |
| Authors | 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
(Affiliation: 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.)
|
| Journal | Nature genetics
(Nat Genet)
Vol. 36
Issue 3
Pg. 225-7
(Mar 2004)
ISSN: 1061-4036 United States |
| PMID | 14770181
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
| Chemical References |
- Fungal Proteins
- Saccharomyces cerevisiae Proteins
- alpha-Fetoproteins
- SEN1 protein, Fungus
- RNA Helicases
- SETX protein, human
|
| Topics |
- Cerebellar Ataxia
(genetics)
- Chromosome Mapping
- Chromosomes, Human, Pair 9
- Fungal Proteins
(genetics)
- Humans
- Mutation
- Ocular Motility Disorders
(genetics)
- RNA Helicases
(genetics)
- Saccharomyces cerevisiae Proteins
(genetics)
- alpha-Fetoproteins
(metabolism)
|
