title: The ocular motor features of adult-onset alexander disease: a case and review of the literature.
abstract: A 51-year-old Chinese man presented with gaze-evoked nystagmus, impaired smooth pursuit and vestibular ocular reflex cancellation, and saccadic dysmetria, along with a family history suggestive of late-onset autosomal dominant parkinsonism. MRI revealed abnormalities of the medulla and cervical spinal cord typical of adult-onset Alexander disease, and genetic testing showed homozygosity for the p.D295N polymorphic allele in the gene encoding the glial fibrillary acidic protein. A review of the literature shows that ocular signs are frequent in adult-onset Alexander disease, most commonly gaze-evoked nystagmus, pendular nystagmus, and/or oculopalatal myoclonus, and less commonly ptosis, miosis, and saccadic dysmetria. These signs are consistent with the propensity of adult-onset Alexander disease to cause medullary abnormalities on neuroimaging.
authors.affiliation: Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Gerald
authors.initials: G
authors.lastname: Pfeffer
authors.forename: Mathias
authors.initials: M
authors.lastname: Abegg
authors.forename: A Talia
authors.initials: AT
authors.lastname: Vertinsky
authors.forename: Isabella
authors.initials: I
authors.lastname: Ceccherini
authors.forename: Francesco
authors.initials: F
authors.lastname: Caroli
authors.forename: Jason J S
authors.initials: JJ
authors.lastname: Barton
mesh_terms: D038261:Alexander Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D001921:Brain / Q000473:pathology; D005071:Evoked Potentials / Q000502:physiology; D005820:Genetic Testing / Q000379:methods; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D015835:Ocular Motility Disorders / Q000209:etiology* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein