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Progressive ataxia with oculo-palatal tremor and optic atrophy

✍ Scribed by Papachatzaki, M. M.; Ali, N.; Arshad, Q.; Cader, S.; Peppas, I.; Everett, C.; Bronstein, A. M.; Schmierer, K.

Book ID
121608717
Publisher
Springer
Year
2013
Tongue
English
Weight
241 KB
Volume
260
Category
Article
ISSN
0340-5354

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## 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