2024-03-28T18:06:15Zhttps://eprints.lib.hokudai.ac.jp/dspace-oai/requestoai:eprints.lib.hokudai.ac.jp:2115/84152022-11-17T02:08:08Zhdl_2115_20043hdl_2115_137An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAPAsahina, NaokoOkamoto, TakayukiSudo, AkiraKanazawa, NaomiTsujino, SeiichiSaitoh, ShinjiAlexander diseaseglial fibrillary acidic proteingenotype-phenotypecorrelationinfantile formjuvenile form491Alexander 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 six-yearold 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.ElsevierJournal Articleapplication/pdfhttp://hdl.handle.net/2115/8415https://eprints.lib.hokudai.ac.jp/dspace/bitstream/2115/8415/1/asahina.pdf0387-7604Brain and Development2821311332006-03enginfo:pmid/16168593info:doi/10.1016/j.braindev.2005.05.004author