Adult-onset Alexander disease with progressive ataxia and palatal tremor

✍ Scribed by Katherine L. Howard; Deborah A. Hall; Michelle Moon; Pinky Agarwal; Elizabeth Newman; Michael Brenner

• Book ID: 102501009
• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 154 KB
• Volume: 23
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.21774

✦ Synopsis

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