Aprataxin (APTX) gene mutations resembling multiple system atrophy.
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.
Baba
Yasuhiko
Y
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Uitti
Ryan J
RJ
Boylan
Kevin B
KB
Uehara
Yoshinari
Y
Yamada
Tatsuo
T
Farrer
Matthew J
MJ
Couchon
Elizabeth
E
Batish
Sat Dev
SD
Wszolek
Zbigniew K
ZK
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*
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins