| Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS. | |
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MedLine Citation:
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PMID: 20558945 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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Ichiro Nozaki; Makoto Arai; Kazuya Takahashi; Tsuyoshi Hamaguchi; Hiroaki Yoshikawa; Toyoteru Muroishi; Moeko Noguchi-Shinohara; Hiroki Ito; Masanari Itokawa; Haruhiko Akiyama; Akihiro Kawata; Masahito Yamada |
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Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article Date: 2010-06-15 |
Journal Detail:
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Title: Internal medicine (Tokyo, Japan) Volume: 49 ISSN: 1349-7235 ISO Abbreviation: Intern. Med. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-06-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9204241 Medline TA: Intern Med Country: Japan |
Other Details:
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Languages: eng Pagination: 1209-12 Citation Subset: IM |
Affiliation:
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Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. nozaki@noto-hospital.jp |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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