Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene.
Mu-Hui FuYung-Yee ChangNi-Hsuan LinAi-Wen YangChiung-Chih ChangJia-Shou LiuCheng-Huei PengKay L H WuMing-Der PerngMin-Yu LanPublished in: Movement disorders : official journal of the Movement Disorder Society (2020)
This study is the first report of AxD caused by a homozygous mutation in GFAP. The clinical implication is while examining patients with characteristic features on suspicion of AxD, GFAP screening is recommended even without a supportive family history. © 2020 International Parkinson and Movement Disorder Society.
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