{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:35:31Z","timestamp":1761006931494,"version":"build-2065373602"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T00:00:00Z","timestamp":1604361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in the tau gene linked to chromosome 17 cause frontotemporal dementia and parkinsonism (FTDP\u201017).<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study presents 3 Japanese familial cases diagnosed with N279K tau gene mutation, including 1 autopsy\u2010confirmed case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We compared the clinical presentations, cognitive functions, and images between the 3 familial cases diagnosed with N279K mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All 3 patients presented symptoms in their early 40s. One patient showed severe cognitive dysfunction and died in his sixth year after onset. The remaining 2 cases presented with parkinsonism\u2010dominant clinical features. Among the 2 cases, 1 presented the characteristic symptoms of progressive supranuclear palsy. The pathological features of the dementia\u2010dominant case showed frontal and temporal lobe\u2010dominant neuronal loss and gliosis. Tau\u2010positive neuronal and glial inclusions were found throughout. Further, tufted astrocytes and globose tangles were present whereas there were no Pick bodies and astrocytic plaques, compatible with pathology\u2010confirmed frontotemporal lobar degeneration (FTLD) \u2010tau subtypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Patients with FTDP\u201017 can be classified into the following 2 major groups: dementia and parkinsonism\u2010plus predominant phenotypes. Among our 3 cases, 1 showed dementia predominance whereas the other 2 showed parkinsonism predominance. Mutations in the microtubule\u2010associated protein tau (<jats:italic>MAPT<\/jats:italic>) present with several pathological features. Clinically, our case presented a behavioral variant frontotemporal dementia (bvFTD). However, morphologically, the observed glial and neuronal pathology met the criteria for progressive supranuclear palsy (PSP). This study highlights the clinical heterogeneity within and between families with same <jats:italic>MAPT<\/jats:italic> mutation. Few pathologically confirmed PSP cases have been reported with mutations in <jats:italic>MAPT<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13100","type":"journal-article","created":{"date-parts":[[2020,10,15]],"date-time":"2020-10-15T11:55:44Z","timestamp":1602762944000},"page":"126-132","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Japanese Familial Cases of Frontotemporal Dementia and Parkinsonism with <scp>N279K<\/scp> Tau Gene Mutation"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8681-0167","authenticated-orcid":false,"given":"Yuwa","family":"Oka","sequence":"first","affiliation":[{"name":"Department of Neurology Kitano Hospital, Tazuke Kofukai Medical Research Institute  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidemoto","family":"Saiki","sequence":"additional","affiliation":[{"name":"Department of Neurology Kitano Hospital, Tazuke Kofukai Medical Research Institute  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasumasa","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Department of Neurology Kitano Hospital, Tazuke Kofukai Medical Research Institute  Osaka Japan"},{"name":"Department of Molecular Therapy National Center of Neurology and Psychiatry, National Institute of Neuroscience  Kodaira Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuta","family":"Terada","sequence":"additional","affiliation":[{"name":"Department of Neurology Kitano Hospital, Tazuke Kofukai Medical Research Institute  Osaka Japan"},{"name":"Department of Neurology Kyoto University Graduate School of Medicine  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Neurology Kitano Hospital, Tazuke Kofukai Medical Research Institute  Osaka 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