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Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case

✍ Scribed by Stamelou, Maria; Adams, Matthew; Davagnanam, Indran; Batla, Amit; Sheerin, Una; Talbot, Kevin; Bhatia, Kailash P.

Book ID
120811063
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
198 KB
Volume
28
Category
Article
ISSN
0885-3185

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Adult-onset Alexander disease with progr
Adult-onset Alexander disease with progressive ataxia and palatal tremor
✍ Katherine L. Howard; Deborah A. Hall; Michelle Moon; Pinky Agarwal; Elizabeth Ne πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 154 KB

## 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 cas