title: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
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.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.
authors.forename: Maria-Céu
authors.initials: MC
authors.lastname: Moreira
authors.forename: Sandra
authors.initials: S
authors.lastname: Klur
authors.forename: Mitsunori
authors.initials: M
authors.lastname: Watanabe
authors.forename: Andrea H
authors.initials: AH
authors.lastname: Németh
authors.forename: Isabelle
authors.initials: I
authors.lastname: Le Ber
authors.forename: José-Carlos
authors.initials: JC
authors.lastname: Moniz
authors.forename: Christine
authors.initials: C
authors.lastname: Tranchant
authors.forename: Patrick
authors.initials: P
authors.lastname: Aubourg
authors.forename: Meriem
authors.initials: M
authors.lastname: Tazir
authors.forename: Lüdger
authors.initials: L
authors.lastname: Schöls
authors.forename: Massimo
authors.initials: M
authors.lastname: Pandolfo
authors.forename: Jörg B
authors.initials: JB
authors.lastname: Schulz
authors.forename: Jean
authors.initials: J
authors.lastname: Pouget
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
authors.forename: Masami
authors.initials: M
authors.lastname: Shizuka-Ikeda
authors.forename: Mikio
authors.initials: M
authors.lastname: Shoji
authors.forename: Makoto
authors.initials: M
authors.lastname: Tanaka
authors.forename: Louise
authors.initials: L
authors.lastname: Izatt
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Shaw
authors.forename: Abderrahim
authors.initials: A
authors.lastname: M'Zahem
authors.forename: Eimear
authors.initials: E
authors.lastname: Dunne
authors.forename: Pascale
authors.initials: P
authors.lastname: Bomont
authors.forename: Traki
authors.initials: T
authors.lastname: Benhassine
authors.forename: Naïma
authors.initials: N
authors.lastname: Bouslam
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: João
authors.initials: J
authors.lastname: Guimarães
authors.forename: Pedro
authors.initials: P
authors.lastname: Mendonça
authors.forename: Clara
authors.initials: C
authors.lastname: Barbot
authors.forename: Paula
authors.initials: P
authors.lastname: Coutinho
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Warter
authors.forename: Michel
authors.initials: M
authors.lastname: Koenig
mesh_terms: D002524:Cerebellar Ataxia / Q000235:genetics*; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004265:DNA Helicases; D005656:Fungal Proteins / Q000235:genetics*; D006801:Humans; D064251:Multifunctional Enzymes; D009154:Mutation; D015835:Ocular Motility Disorders / Q000235:genetics*; D020365:RNA Helicases / Q000235:genetics*; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D005656:Fungal Proteins; D064251:Multifunctional Enzymes; D029701:Saccharomyces cerevisiae Proteins; D000509:alpha-Fetoproteins; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases