Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene

Mov Disord. 2004 Oct;19(10):1244-8. doi: 10.1002/mds.20161.

Abstract

We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Alexander Disease / complications*
  • Alexander Disease / diagnosis
  • Alexander Disease / genetics*
  • Brain / pathology
  • Female
  • Gene Expression / genetics*
  • Genes, Dominant / genetics*
  • Glial Fibrillary Acidic Protein / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Palate, Soft / physiopathology*
  • Pedigree
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Tremor / complications*
  • Tremor / physiopathology*

Substances

  • Glial Fibrillary Acidic Protein