{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T22:07:19Z","timestamp":1788473239421,"version":"build-2803163510"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,12,1]],"date-time":"2008-12-01T00:00:00Z","timestamp":1228089600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Frontotemporal lobar degeneration (FTLD) consists of a clinically and neuropathologically heterogeneous group of syndromes affecting the frontal and temporal lobes of the brain. Mutations in microtubule-associated protein tau (<jats:italic>MAPT<\/jats:italic>), progranulin (<jats:italic>PGRN<\/jats:italic>) and charged multi-vesicular body protein 2B (<jats:italic>CHMP2B<\/jats:italic>) are associated with familial forms of the disease. The prevalence of these mutations varies between populations. The H1 haplotype of <jats:italic>MAPT<\/jats:italic> has been found to be closely associated with tauopathies and with sporadic FTLD. Our aim was to investigate <jats:italic>MAPT<\/jats:italic> mutations and haplotype frequencies in a clinical series of patients with FTLD in Northern Finland.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>\n              <jats:italic>MAPT<\/jats:italic> exons 1, 2 and 9\u201313 were sequenced in 59 patients with FTLD, and <jats:italic>MAPT<\/jats:italic> haplotypes were analysed in these patients, 122 patients with early onset Alzheimer's disease (eoAD) and 198 healthy controls.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>No pathogenic mutations were found. The H2 allele frequency was 11.0% (<jats:italic>P<\/jats:italic> = 0.028) in the FTLD patients, 9.8% (<jats:italic>P<\/jats:italic> = 0.029) in the eoAD patients and 5.3% in the controls. The H2 allele was especially clustered in patients with a positive family history (<jats:italic>P<\/jats:italic> = 0.011) but did not lower the age at onset of the disease. The ApoE4 allele frequency was significantly increased in the patients with eoAD and in those with FTLD.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>We conclude that although pathogenic <jats:italic>MAPT<\/jats:italic> mutations are rare in Northern Finland, the <jats:italic>MAPT<\/jats:italic> H2 allele may be associated with increased risks of FTLD and eoAD in the Finnish population.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2377-8-48","type":"journal-article","created":{"date-parts":[[2008,12,17]],"date-time":"2008-12-17T19:13:33Z","timestamp":1229541213000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland"],"prefix":"10.1186","volume":"8","author":[{"given":"Anna-Lotta","family":"Kaivorinne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Kr\u00fcger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Kuivaniemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannu","family":"Tuominen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virpi","family":"Moilanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Majamaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M","family":"Remes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,12,17]]},"reference":[{"key":"210_CR1","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1016\/S1474-4422(05)70223-4","volume":"4","author":"D Neary","year":"2005","unstructured":"Neary D, Snowden J, Mann D: Frontotemporal dementia. 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