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Familial frontotemporal dementia and parkinsonism. Masato HASEGAWA 1 1Department of Neuropathology and Neuroscience, Graduate School of Pharmaceutical Sciences, University of Tokyo Keyword: FTDP-17 , タウ , 微小管 , スプライシング pp.577-588
Published Date 2000/8/10
DOI https://doi.org/10.11477/mf.1431901172
  • Abstract
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Exonic and intronic tau mutations have been described in a number of families of frontotemporal dementia and parkinsonism linked to chromosome 17. Most of missense mutations reduce the ability of tau to promote microtubule assembly, whereas others influence splicing of exon 10 and change the ratio of three-repeat to four-repeat tau isoforms. The location of the tau mutation appear to determine the nature of the pathology. These tau mutations have been examined lead to filamentous tau pathologies in neuronal and/or glial cells. It appears that nerve cells degenerate because of these tau filaments.


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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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