title: Aprataxin (APTX) gene mutations resembling multiple system atrophy.
abstract: Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene (725G-->A and 457A-->G). These variants on the APTX gene exhibit phenotypic variability.
authors.affiliation: Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Baba
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: Kevin B
authors.initials: KB
authors.lastname: Boylan
authors.forename: Yoshinari
authors.initials: Y
authors.lastname: Uehara
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Yamada
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Couchon
authors.forename: Sat Dev
authors.initials: SD
authors.lastname: Batish
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D019578:Multiple System Atrophy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins