{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T04:33:02Z","timestamp":1791952382093,"version":"4.3.4"},"reference-count":0,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2013,10,10]],"date-time":"2013-10-10T00:00:00Z","timestamp":1381363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer\u2019s Disease"],"published-print":{"date-parts":[[2013,10,10]]},"abstract":"<jats:p>Frontotemporal lobe degeneration includes a large spectrum of neurodegenerative disorders. Patients with frontotemporal dementia with parkinsonism linked to chromosome 17 exhibit heterogeneity in both clinical and neuropathological features. Here, we report the case of a young patient with a G389R mutation. This teenager girl was 17 years old when she progressively developed severe behavioral disturbances. First, she was considered to be suffering from atypical depression. After 2 years, she was referred to the department of neurology. By this time, the patient exhibited typical frontotemporal dementia with mild extrapyramidal disorders. The main behavioral features included apathy and reduced speech output. MRI and SPECT showed a frontotemporal atrophy and hypofixation, respectively. She died 7 years after onset. Three relatives on her father side had also died after early onset dementia. Genetic testing revealed a heterozygous guanine to cytosine mutation at the first base of codon 389 (Exon 13) of MAPT, the tau gene, resulting in a glycine to arginine substitution, in the patient and her non-affected father. Postmortem neuropathological and biochemical data indicate a Pick-like tau pathology but with phosphoserine 262-positive immunoreactivity. This case is remarkable because of the extremely early onset of the disease.<\/jats:p>","DOI":"10.3233\/jad-130413","type":"journal-article","created":{"date-parts":[[2018,6,4]],"date-time":"2018-06-04T11:59:40Z","timestamp":1528113580000},"page":"769-776","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":26,"title":["Juvenile Frontotemporal Dementia with Parkinsonism Associated with Tau Mutation G389R"],"prefix":"10.1177","volume":"37","author":[{"given":"Marie-Pierre","family":"Chaunu","sequence":"first","affiliation":[{"name":"Department of Neurology, Maison Blanche Hospital, Reims University Hospital, Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Deramecourt","sequence":"additional","affiliation":[{"name":"Univ Lille Nord de France, Lille University Hospital, Lille, France"},{"name":"Univ Lille Nord de France, Histology and Neuropathology Departments, Lille University Hospital, Lille, France"},{"name":"INSERM U837 and Univ Lille Nord de France, Jean-Pierre Aubert Research Centre, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Bu\u00e9e-Scherrer","sequence":"additional","affiliation":[{"name":"INSERM U837 and Univ Lille Nord de France, Jean-Pierre Aubert Research Centre, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Le Ber","sequence":"additional","affiliation":[{"name":"Department of Genetics and Cytogenetics, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, France"},{"name":"CR-ICM UMRS975, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[{"name":"Department of Genetics and Cytogenetics, AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, France"},{"name":"CR-ICM UMRS975, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Ehrle","sequence":"additional","affiliation":[{"name":"Department of Neurology, Maison Blanche Hospital, Reims University Hospital, Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"El Hachimi","sequence":"additional","affiliation":[{"name":"CR-ICM UMRS975, Paris, France"},{"name":"Ecole Pratique des Hautes Etudes, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Pluot","sequence":"additional","affiliation":[{"name":"Department of Pathology, Robert Debr\u00e9 Hospital, Reims University Hospital, Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude-Alain","family":"Maurage","sequence":"additional","affiliation":[{"name":"Univ Lille Nord de France, Histology and Neuropathology Departments, Lille University Hospital, Lille, France"},{"name":"INSERM U837 and Univ Lille Nord de France, Jean-Pierre Aubert Research Centre, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Bakchine","sequence":"additional","affiliation":[{"name":"Department of Neurology, Maison Blanche Hospital, Reims University Hospital, Reims, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc","family":"Bu\u00e9e","sequence":"additional","affiliation":[{"name":"INSERM U837 and Univ Lille Nord de France, Jean-Pierre Aubert Research Centre, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,10,10]]},"container-title":["Journal of Alzheimer\u2019s Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JAD-130413","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JAD-130413","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:03:10Z","timestamp":1777370590000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JAD-130413"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,10]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,10,10]]}},"alternative-id":["10.3233\/JAD-130413"],"URL":"https:\/\/doi.org\/10.3233\/jad-130413","relation":{},"ISSN":["1387-2877","1875-8908"],"issn-type":[{"value":"1387-2877","type":"print"},{"value":"1875-8908","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,10]]}}}