title: Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS.
abstract: We report a 52-year-old Japanese man showing both upper and lower motor neuron signs with familial amyotrophic lateral sclerosis (ALS). Analysis of the TAR DNA-binding protein of 43 kDa (TDP-43) gene (TARDBP) revealed a glycine-to-serine substitution at position 298 (G298S). Cerebrospinal fluid (CSF) level of total tau protein (CSF-tau) of our patient was found to be highly elevated compared with those of sporadic ALS cases and controls. The elevated CSF-tau level might be related to the damage of neurons exhibiting a large number of TDP-43 inclusions in familial ALS with this mutation.
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. nozaki@noto-hospital.jp
authors.forename: Ichiro
authors.initials: I
authors.lastname: Nozaki
authors.forename: Makoto
authors.initials: M
authors.lastname: Arai
authors.forename: Kazuya
authors.initials: K
authors.lastname: Takahashi
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Hamaguchi
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: Toyoteru
authors.initials: T
authors.lastname: Muroishi
authors.forename: Moeko
authors.initials: M
authors.lastname: Noguchi-Shinohara
authors.forename: Hiroki
authors.initials: H
authors.lastname: Ito
authors.forename: Masanari
authors.initials: M
authors.lastname: Itokawa
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Akiyama
authors.forename: Akihiro
authors.initials: A
authors.lastname: Kawata
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D000690:Amyotrophic Lateral Sclerosis / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000134:cerebrospinal fluid* / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D012694:Serine / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D012694:Serine; D005998:Glycine