title: A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.
abstract: Heterozygous point mutations in the coding region of the human glial fibrillary acidic protein (GFAP) gene have been reported in patients with various forms of Alexander disease (AD). We report a case of genetically confirmed adult-onset AD with palatal myoclonus, pyramidal tract signs, cerebellar signs, and marked atrophy of the medulla oblongata and spinal cord, autonomic dysfunction and heterozygous R416W GFAP mutation. Interestingly, this R416W mutation has also been reported in both infantile and juvenile forms of Alexander disease. The fact that a R416W mutation causes various types of AD suggests that clinical severities of AD are due not only to the different sites and nature of mutations in GFAP, but also to other modifying factor(s).
authors.affiliation: First Department of Internal Medicine, Kurume University School of Medicine, Kurume 830-0011, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kinoshita
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Imaizumi
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Miura
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Fujimoto
authors.forename: Mitsuyoshi
authors.initials: M
authors.lastname: Ayabe
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shoji
authors.forename: Yuji
authors.initials: Y
authors.lastname: Okamoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Osame
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
mesh_terms: D000328:Adult; D017668:Age of Onset; D038261:Alexander Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D001483:Base Sequence / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D011859:Radiography; D013116:Spinal Cord / Q000000981:diagnostic imaging
chemical_list: D005904:Glial Fibrillary Acidic Protein