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