共济失调
发病年龄
医学
胶质纤维酸性蛋白
突变
疾病
退行性疾病
儿科
病理
生物
遗传学
基因
精神科
免疫组织化学
作者
Katherine L. Howard,Deborah A. Hall,Michelle Moon,Pinky Agarwal,Elizabeth A. Newman,Michael Brenner
摘要
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.
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