title: Phenotypic variability of aprataxin gene mutations.
abstract: The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese founding haplotype. Patients 2 and 3 were French siblings and did not present with either OMA or hypoalbuminemia. They were compound heterozygous for the nonsense W279X mutation and a missense K197Q mutation.
authors.affiliation: Clinique neurologique, Hôpitaux universitaires, CNRS, INSERM, Strasbourg. France. Christine.Tranchant@chru-strasbourg.fr
authors.forename: C
authors.initials: C
authors.lastname: Tranchant
authors.forename: M
authors.initials: M
authors.lastname: Fleury
authors.forename: M C
authors.initials: MC
authors.lastname: Moreira
authors.forename: M
authors.initials: M
authors.lastname: Koenig
authors.forename: J M
authors.initials: JM
authors.lastname: Warter
mesh_terms: D000328:Adult; D001072:Apraxias / Q000235:genetics*; D001259:Ataxia / Q000235:genetics*; D001284:Atrophy / Q000235:genetics; D002531:Cerebellum / Q000473:pathology; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009422:Nervous System Diseases / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D013577:Syndrome
chemical_list: C438188:APTX protein, human; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins