Familial ALS with G298S Mutation in TARDBP: A Comparison of CSF Tau Protein Levels with those in Sporadic ALS
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概要
- 論文の詳細を見る
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.
著者
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Takahashi Kazuya
Department of Geriatric Dentistry, Osaka Dental University
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Nozaki Ichiro
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sc
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Arai Makoto
Tokyo Institute of Psychiatry
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Hamaguchi Tsuyoshi
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sc
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Yoshikawa Hiroaki
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sc
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Muroishi Toyoteru
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sc
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Noguchi-Shinohara Moeko
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sc
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Ito Hiroki
Department of Neurology, Ichinomiya Municipal Hospital
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Itokawa Masanari
Tokyo Institute of Psychiatry
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Akiyama Haruhiko
Tokyo Institute of Psychiatry
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Kawata Akihiro
Department of Neurology, Tokyo Metropolitan Neurological Hospital
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Yamada Masahito
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sc
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Nozaki Ichiro
Department Of Biochemistry And Molecular Vascular Biology Kanazawa University Graduate School Of Med
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Yoshikawa Hiroaki
Department Of Electrical Engineering Osaka University
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Ito Hiroki
Department Of Autonomic And Behavioral Neurosciences Division Of Higher Nervous Control Institute Of
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Hamaguchi Tsuyoshi
Department Of Neurology And Neurobiology Of Aging Kanazawa University Graduate School Of Medical Sci
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Takahashi Kazuya
Department Of Chemistry The University Of Tokyo
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Yamada Masahito
Department Of Neurology & Neurobiology Of Aging Kanazawa University Graduate School Of Medical S
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Muroishi Toyoteru
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science
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Noguchi-Shinohara Moeko
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science
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