title: Atypical presentation of ataxia-oculomotor apraxia type 1.
abstract: A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor apraxia (OMA) and other variable features has been reported. Ataxia-oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. AOA1 is associated with oculomotor apraxia, severe sensorimotor neuropathy, choreiform movements, cognitive impairment, and cerebellar atrophy at an early age. We describe a male child with AOA1 who is homozygous for the G837A (W279X) mutation in the APTX gene. He presented at the age of 3 years 6 months with some atypical features including absence of OMA, chorea, and cerebellar atrophy. These manifestations, in addition to peripheral neuropathy, appeared at 8 years of age. We highlight the importance of considering the diagnosis of AOA1 in children with early-onset cerebellar ataxia, once other well-known disorders such as Friedreich's ataxia and ataxia-telangiectasia have been excluded.
authors.affiliation: Neurology Department, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Amre
authors.initials: A
authors.lastname: Shahwan
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Byrd
authors.forename: A Malcolm R
authors.initials: AM
authors.lastname: Taylor
authors.forename: Therese
authors.initials: T
authors.lastname: Nestor
authors.forename: Stephanie
authors.initials: S
authors.lastname: Ryan
authors.forename: Mary D
authors.initials: MD
authors.lastname: King
mesh_terms: D001072:Apraxias / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004562:Electrocardiography; D006801:Humans; D007223:Infant; D033862:Iron-Binding Proteins / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D015840:Oculomotor Nerve Diseases / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics; D014057:Tomography, X-Ray Computed; D000096923:Frataxin
chemical_list: D004268:DNA-Binding Proteins; D033862:Iron-Binding Proteins; D009687:Nuclear Proteins; D000096923:Frataxin; C438188:APTX protein, human