Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nat Genet
; 36(3): 225-7, 2004 Mar.
Article
in En
| MEDLINE
| ID: mdl-14770181
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Fungal Proteins
/
Ocular Motility Disorders
/
Cerebellar Ataxia
/
RNA Helicases
Limits:
Humans
Language:
En
Journal:
Nat Genet
Journal subject:
GENETICA MEDICA
Year:
2004
Type:
Article
Affiliation country:
France