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Keywords:

  • Alexander disease;
  • GFAP;
  • leukodystrophy;
  • palatal tremor

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. © 2004 Movement Disorder Society