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 journalArticle

6 Citations (Scopus)

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

Fingerprint

Alexander Disease
Cerebellar Ataxia
Pathologic Nystagmus
Miosis
Smooth Pursuit
Myoclonus
Glial Fibrillary Acidic Protein
Genetic Testing
Parkinsonian Disorders
Neuroimaging
Reflex
Alleles
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Ophthalmology

Cite this

The ocular motor features of adult-onset alexander disease : A case and review of the literature. / Pfeffer, Gerald; Abegg, Mathias; Vertinsky, A. Talia; Ceccherini, Isabella; Caroli, Francesco; Barton, Jason J S.

In: Journal of Neuro-Ophthalmology, Vol. 31, No. 2, 06.2011, p. 155-159.

Research output: Contribution to journalArticle

Pfeffer, Gerald ; Abegg, Mathias ; Vertinsky, A. Talia ; Ceccherini, Isabella ; Caroli, Francesco ; Barton, Jason J S. / The ocular motor features of adult-onset alexander disease : A case and review of the literature. In: Journal of Neuro-Ophthalmology. 2011 ; Vol. 31, No. 2. pp. 155-159.
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