title: TRH therapy in a patient with juvenile Alexander disease.
abstract: Alexander disease is a rare disorder of the central nervous system caused by a de novo mutation in the glial fibrillary acidic protein (GFAP) gene. Unlike the much more common infantile form, the juvenile form is slowly progressive with bulbar, pyramidal and cerebellar signs. Herein, we report a 9-year old Japanese girl suffering from frequent vomiting, slurred speech and truncal ataxia. Juvenile Alexander disease was diagnosed by genetic analysis, which detected a novel GFAP mutation, D360V. We also describe our clinical success in treating this patient with thyrotropin releasing hormone (TRH).
authors.affiliation: Tokyo Women's Medical University, School of Medicine, Department of Pediatrics, 8-1 Kawadacho, 162-8666 Shinjuku-ku, Tokyo, Japan. keig3@almond.ocn.ne.jp
authors.forename: Keiko
authors.initials: K
authors.lastname: Ishigaki
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ito
authors.forename: Yukio
authors.initials: Y
authors.lastname: Sawaishi
authors.forename: Kayano
authors.initials: K
authors.lastname: Kodaira
authors.forename: Makoto
authors.initials: M
authors.lastname: Funatsuka
authors.forename: Nozomi
authors.initials: N
authors.lastname: Hattori
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Nakano
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
mesh_terms: D038261:Alexander Disease / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D001224:Aspartic Acid / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation; D013973:Thyrotropin-Releasing Hormone / Q000627:therapeutic use*; D014633:Valine / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein; D001224:Aspartic Acid; D013973:Thyrotropin-Releasing Hormone; D014633:Valine