Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
A 14-year-old girl, homozygous for an insertion mutation of aprataxin (APTX), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder.
Sekijima
Yoshiki
Y
Third Department of Medicine, Shinshu University School of Medicine, Asahi, Matsumoto, Japan.
Hashimoto
Takao
T
Onodera
Osam
O
Date
Hidetoshi
H
Okano
Tomomi
T
Naito
Kosuke
K
Tsuji
Shoji
S
Ikeda
Shu-ichi
S
D000293:Adolescent; D001072:Apraxias / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D001931:Brain Mapping; D002531:Cerebellum / Q000473:pathology; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004421:Dystonia / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D034141:Hypoalbuminemia / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D013912:Threonine / Q000235:genetics
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D013912:Threonine