title: [A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis].
abstract: Alexander disease is a hereditary disorder of myelin degeneration. The pathological feature of the brain is the characteristic inclusion bodies in astrocytes called Rosenthal fibers. The major components of the Rosental fibers are known to be alpha B-crystallin and glial fibrillary acidic protein (GFAP). In recent years, reports have indicated mutations of the GFAP gene in patients with Alexander disease. The R239 mutation (R239C, R239H) tends to cause comparatively more severe conditions among the GFAP mutations. In this study. we examined a long-term survival case of a patient (age 25 years, 7 months) with infantile Alexander disease with an R239C mutation confirmed by DNA analysis. There are no past reports of subjects with the R239C mutation who had as prolonged a long-term survival as our case. Our subject's condition was not as severe as those with the R239H mutation. The clinical progress in those other reports also varied by case. The R239C mutation does not show as much correlation with the clinical presentation as the R239H mutation. We believe that factors such as the environment also play a part in the prognosis of the disease.
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa. kazuyo-1@bj8.so-net.ne.jp
authors.forename: Kazuyo
authors.initials: K
authors.lastname: Wakabayashi
authors.forename: Mizue
authors.initials: M
authors.lastname: Lai
authors.forename: Kaori
authors.initials: K
authors.lastname: Masuko
authors.forename: Sumimasa
authors.initials: S
authors.lastname: Yamashita
authors.forename: Michiko
authors.initials: M
authors.lastname: Yamada
authors.forename: Hiroko
authors.initials: H
authors.lastname: Iwamoto
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.forename: Naohide
authors.initials: N
authors.lastname: Shiroma
authors.forename: Naomi
authors.initials: N
authors.lastname: Kanazawa
authors.forename: Seiichi
authors.initials: S
authors.lastname: Tsujino
mesh_terms: D000328:Adult; D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017741:Survivors
chemical_list: D005904:Glial Fibrillary Acidic Protein