Yasuda Rei, Yoshida Tomokatsu, Mizuta Ikuko, Nakagawa Masanori, Mizuno Toshiki
Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Department of Neurology, North Medical Center, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Hum Genome Var. 2017 Jul 6;4:17028. doi: 10.1038/hgv.2017.28. eCollection 2017.
Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein () gene mutations, most of which are missense mutations. We present an AxD case with a novel three-base duplication mutation in resulting in E243dup.
亚历山大病（AxD）是一种由胶质纤维酸性蛋白（GFAP）基因突变引起的罕见遗传性神经退行性疾病，其中大多数是错义突变。我们报告了一例AxD病例，该病例在GFAP基因中存在一种新的三碱基重复突变，导致E243dup。
