The ocular motor features of adult-onset alexander disease: A case and review of the literature

Gerald Pfeffer, Mathias Abegg, A. Talia Vertinsky, Isabella Ceccherini, Francesco Caroli, Jason J S Barton

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)155-159
Number of pages5
JournalJournal of Neuro-Ophthalmology
Volume31
Issue number2
DOIs
Publication statusPublished - Jun 2011

ASJC Scopus subject areas

  • Clinical Neurology
  • Ophthalmology

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