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Keywords:

  • adult-onset Alexander disease;
  • PAPT;
  • ataxia;
  • palatal tremor;
  • GFAP

Abstract

A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease. This is the oldest reported case with confirmation of a GFAP mutation. Onset was late in the sixth decade. Genetic analysis of the GFAP gene is recommended in cases of progressive ataxia and palatal tremor. © 2007 Movement Disorder Society