title: Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
abstract: 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.
authors.affiliation: Third Department of Medicine, Shinshu University School of Medicine, Asahi, Matsumoto, Japan.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Sekijima
authors.forename: Takao
authors.initials: T
authors.lastname: Hashimoto
authors.forename: Osam
authors.initials: O
authors.lastname: Onodera
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Date
authors.forename: Tomomi
authors.initials: T
authors.lastname: Okano
authors.forename: Kosuke
authors.initials: K
authors.lastname: Naito
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.forename: Shu-ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: 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
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D013912:Threonine