{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:18:02Z","timestamp":1790788682488,"version":"4.1.0"},"reference-count":18,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T00:00:00Z","timestamp":1284422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T00:00:00Z","timestamp":1284422400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2011]]},"abstract":"<i>Background:<\/i><i> MAPT <\/i>mutations are associated with disorders within the frontotemporal lobar degeneration spectrum. The usual presenting syndrome is behavioural variant frontotemporal dementia, although some patients present with parkinsonism. In a number of these cases the dominant clinical features have been consistent with a progressive supranuclear palsy (PSP) syndrome. <i>Objective:<\/i> To describe a family with an autosomal dominant PSP syndrome with a novel L284R mutation in the <i>MAPT<\/i> gene. <i>Methods:<\/i> A retrospective case review and genetic analysis of the <i>MAPT<\/i> gene. A literature review of PSP syndromes associated with mutations in the <i>MAPT<\/i> gene. <i>Results:<\/i> Multiple members of family DRC292 across different generations had a PSP syndrome with 1 member of the family being found to have a novel L284R mutation in the <i>MAPT<\/i> gene. Behavioural features were also prominent in most cases. A PSP syndrome is only a rare finding associated with <i>MAPT<\/i> mutations and many of these cases have atypical clinical features. <i>Conclusion:<\/i> Although rare, <i>MAPT<\/i> mutations should be considered when there is an autosomal dominant family history of a PSP syndrome, particularly of young onset and with prominent behavioural features.<\/jats:p>","DOI":"10.1159\/000319454","type":"journal-article","created":{"date-parts":[[2010,9,15]],"date-time":"2010-09-15T13:37:48Z","timestamp":1284557868000},"page":"149-152","source":"Crossref","is-referenced-by-count":50,"title":["Novel L284R <i>MAPT <\/i>Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome"],"prefix":"10.1159","volume":"8","author":[{"given":"Jonathan D.","family":"Rohrer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic","family":"Paviour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Vandrovcova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Hodges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohan","family":"de Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin N.","family":"Rossor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,9,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2F31508"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410430617"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.95.13.7737"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1750-3639.2007.00052.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1750-3639.2007.00054.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004010051052"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2F123.5.880"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.10340"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1001%2Farchneur.59.6.943"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.20006"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1001%2Farchneur.62.9.1444"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawm280"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1212%2FWNL.0b013e3181a92bcc"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1212%2FWNL.0b013e3181bf997a"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.96.10.5598"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1001%2Farchneur.58.3.383"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002%2F1531-8249%2820010201%2949%3A2%3C263%3A%3AAID-ANA50%3E3.0.CO%3B2-K"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2F124.8.1666"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/319454","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/319454","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:41:46Z","timestamp":1745437306000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000319454"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,14]]},"references-count":18,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2011,3,1]]},"published-print":{"date-parts":[[2011,3,29]]}},"URL":"https:\/\/doi.org\/10.1159\/000319454","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"value":"1660-2854","type":"print"},{"value":"1660-2862","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,14]]}}}