Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
Ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. We report two American children, a sister and a brother, with type 1 ataxia with oculomotor apraxia and aprataxin gene mutations and briefly review type 1 ataxia with oculomotor apraxia.
Tsao
Chang Y
CY
Department of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA. ctsao@chi.osu.edu
Paulson
George
G
D001072:Apraxias / Q000150:complications / Q000235:genetics*; D001259:Ataxia / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000150:complications / Q000235:genetics*; D014481:United States
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins