Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS.
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.
Nozaki
Ichiro
I
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. nozaki@noto-hospital.jp
Arai
Makoto
M
Takahashi
Kazuya
K
Hamaguchi
Tsuyoshi
T
Yoshikawa
Hiroaki
H
Muroishi
Toyoteru
T
Noguchi-Shinohara
Moeko
M
Ito
Hiroki
H
Itokawa
Masanari
M
Akiyama
Haruhiko
H
Kawata
Akihiro
A
Yamada
Masahito
M
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
D004268:DNA-Binding Proteins; D012694:Serine; D005998:Glycine