Asahina Naoko, Okamoto Takayuki, Sudo Akira, Kanazawa Naomi, Tsujino Seiichi, Saitoh Shinji
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo 060-8638, Japan.
Brain Dev. 2006 Mar;28(2):131-3. doi: 10.1016/j.braindev.2005.05.004. Epub 2005 Sep 15.
Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. It has been classified into three forms based on the age of onset and severity: an infantile, a juvenile, and an adult form. In a 6-year-old patient with a relatively mild form of Alexander disease, we detected a common R79H mutation in GFAP, previously only described in the infantile form. These results suggest the need for further studies of the genotype-phenotype correlation.
亚历山大病是一种由于胶质纤维酸性蛋白（GFAP）基因突变导致的退行性白质疾病。根据发病年龄和严重程度，它已被分为三种类型：婴儿型、青少年型和成人型。在一名患有相对轻度亚历山大病的6岁患者中，我们在GFAP基因中检测到一种常见的R79H突变，该突变此前仅在婴儿型中被描述过。这些结果表明需要进一步研究基因型与表型的相关性。
