{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,11]],"date-time":"2024-08-11T02:47:29Z","timestamp":1723344449739},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,6,12]],"date-time":"2015-06-12T00:00:00Z","timestamp":1434067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:p>We describe a <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese autopsy case of familial amyotrophic lateral sclerosis (<jats:styled-content style=\"fixed-case\">FALS<\/jats:styled-content>) with a <jats:italic><jats:styled-content style=\"fixed-case\">TARDBP<\/jats:styled-content><\/jats:italic>\u2005<jats:styled-content style=\"fixed-case\">Q343R<\/jats:styled-content> mutation. This male patient developed dysarthria at the age of 52 years, and bulbar symptoms progressed, with weakness and atrophy in the extremities. His mental status was normal, but he became bedridden, received artificial respiratory support at 54 years of age, and gradually acquired a locked\u2010in state and died at 58 years of age. Microscopically, marked diffuse myelin pallor was observed in the anterolateral columns of the spinal cord. The remaining anterior horn cells contained <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>unina bodies and phosphorylation\u2010dependent transactivation response <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\u2010binding protein of 43\u2009kDa (<jats:styled-content style=\"fixed-case\">pTDP<\/jats:styled-content>\u201043)\u2010positive neuronal cytoplasmic inclusions (<jats:styled-content style=\"fixed-case\">NCIs<\/jats:styled-content>). Glial cytoplasmic inclusions (<jats:styled-content style=\"fixed-case\">GCIs<\/jats:styled-content>) were also observed. The number of ubiquitin\u2010 and p62\u2010positive inclusions was markedly lower than that of <jats:styled-content style=\"fixed-case\">pTDP<\/jats:styled-content>\u201043\u2010positive inclusions. <jats:styled-content style=\"fixed-case\">NCIs<\/jats:styled-content> and many fine dot\u2010like <jats:styled-content style=\"fixed-case\">pTDP<\/jats:styled-content>\u201043\u2010positive granules in the neuropil were mainly seen in the temporal and motor cortices, and striatum. <jats:styled-content style=\"fixed-case\">NCIs<\/jats:styled-content> were rare in hippocampal granular cells. Immunoblotting of samples from the cerebral cortex using an anti\u2010<jats:styled-content style=\"fixed-case\">pTDP<\/jats:styled-content>\u201043 antibody was slightly different from previous <jats:styled-content style=\"fixed-case\">TDP<\/jats:styled-content>\u201043 pathological subtypes.<\/jats:p>","DOI":"10.1111\/neup.12209","type":"journal-article","created":{"date-parts":[[2015,6,19]],"date-time":"2015-06-19T23:53:02Z","timestamp":1434757982000},"page":"462-468","source":"Crossref","is-referenced-by-count":7,"title":["An autopsy case of familial amyotrophic lateral sclerosis with a <scp><i>TARDBP<\/i> Q343R<\/scp> mutation"],"prefix":"10.1111","volume":"35","author":[{"given":"Koichi","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Neurology Geriatrics Research Institute and Hospital  Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukio","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Neurology Gunma University Graduate School of Medicine  Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eri","family":"Hoshino","sequence":"additional","affiliation":[{"name":"Department of Neurology Gunma University Graduate School of Medicine  Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhji","family":"Tamura","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Kiboukan Hospital  Takasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Fukuda","sequence":"additional","affiliation":[{"name":"Department of Histopathology and Cytopathology Gunma University Graduate School of Health Sciences  Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masato","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Neuropathology and Cell Biology Tokyo Metropolitan Institute of Medical Science  Tokyo 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