title: A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.
abstract: ARX mutations are associated with variable clinical phenotypes. We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome). A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially diagnosed as infantile spasms. Clinical deterioration was accompanied by progressive cortical atrophy with a reduction in white matter volume and resulting in death in the first year of life; such a rapidly progressive and severe phenotype has not previously been described. ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy.
authors.affiliation: Department of Paediatric Neurology, Oxford Children's Hospital, Oxford, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Absoud
authors.forename: Jeremy R
authors.initials: JR
authors.lastname: Parr
authors.forename: Dorothy
authors.initials: D
authors.lastname: Halliday
authors.forename: Pieter
authors.initials: P
authors.lastname: Pretorius
authors.forename: Zenobia
authors.initials: Z
authors.lastname: Zaiwalla
authors.forename: Sandeep
authors.initials: S
authors.lastname: Jayawant
mesh_terms: D001284:Atrophy / Q000235:genetics / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020820:Dyskinesias / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009410:Nerve Degeneration / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors