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Adult‐onset Alexander disease with progressive ataxia and palatal tremor
Author(s) -
Howard Katherine L.,
Hall Deborah A.,
Moon Michelle,
Agarwal Pinky,
Newman Elizabeth,
Brenner Michael
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21774
Subject(s) - ataxia , age of onset , medicine , glial fibrillary acidic protein , mutation , disease , degenerative disease , pediatrics , pathology , biology , genetics , gene , psychiatry , immunohistochemistry
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