An unusual presentation of late-onset Alexander’s disease with slow orthostatic tremor and a novel GFAP variant

Derek W. Stitt, Ralitza M Gavrilova, Robert Watson, Anhar Hassan

Research output: Contribution to journalArticlepeer-review

Abstract

Alexander disease (AxD) is a leukodystrophy, described in infantile, juvenile and adult onset forms, due to mutations in the glial fibrillary acid protein (GFAP) gene. Adult-onset AxD (AOAD) has a range of clinical and radiographic phenotypes with the oldest reported onset in the seventh decade.We report a case of AOAD, with onset in the eighth decade, presenting with slow variant orthostatic tremor, which has not been previously described. Genetic analysis revealed a GFAP variant (c.1158C>A) that has not been previously reported. Our case serves to expand the diagnostic spectrum of AOAD both clinically and genetically.

Original languageEnglish (US)
Pages (from-to)266-268
Number of pages3
JournalNeurocase
Volume24
Issue number5-6
DOIs
StatePublished - Nov 2 2018

Keywords

  • electrophysiology
  • Genetics
  • leukodystrophy
  • magnetic resonance imaging
  • orthostatic tremor

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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