{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:29:01Z","timestamp":1791026941521,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,7,29]],"date-time":"2009-07-29T00:00:00Z","timestamp":1248825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:p>Autosomal dominantly transmitted Alzheimer's disease (AD) and frontotemporal dementia (FTD) are genetically heterogeneous disorders. To date, three genes have been identified in which mutations cause early\u2010onset autosomal dominant inherited AD: <jats:italic>APP, PSEN1<\/jats:italic>, and <jats:italic>PSEN2.<\/jats:italic> Mutations in two genes on chromosome 17, the <jats:italic>MAPT<\/jats:italic> and the <jats:italic>PGRN<\/jats:italic> genes, are associated with autosomal dominant inherited FTD. The aim of this study was to characterize the mutation spectrum and describe genotype\u2010phenotype correlations in families with inherited dementia. The identification of novel mutations and\/or atypical genotype\u2010phenotype correlations contributes to further characterizing the disorders. DNA\u2010samples from the 90 index cases from a Danish referral\u2010based cohort representing families with presumed autosomal dominant inherited AD or FTD were screened for mutations in the known genes with sequencing, denaturing high\u2010performance liquid chromatography (DHPLC) and multiplex ligation\u2010dependent probe amplification (MLPA) techniques. Seven presumed pathogenic mutations (two <jats:italic>PSEN1<\/jats:italic>, one <jats:italic>PSEN2<\/jats:italic>, one <jats:italic>APP<\/jats:italic>, one <jats:italic>MAPT<\/jats:italic>, and two <jats:italic>PGRN<\/jats:italic>) were identified, including a novel <jats:italic>PSEN2<\/jats:italic> mutation (V393M). No dosage aberrations were identified.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01191.x","type":"journal-article","created":{"date-parts":[[2009,7,29]],"date-time":"2009-07-29T07:00:26Z","timestamp":1248850826000},"page":"205-209","source":"Crossref","is-referenced-by-count":19,"title":["Genetic testing in familial AD and FTD: Mutation and phenotype spectrum in a Danish cohort"],"prefix":"10.1111","volume":"76","author":[{"given":"SG","family":"Lindquist","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Batbayli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Waldemar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JE","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,24]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"2988","article-title":"Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease","volume":"15","author":"Goate A","year":"2006","journal-title":"Hum Mol Genet"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7638622"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/376775a0"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/31508"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05016"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05017"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1609"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm309"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1332"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198906013202203"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1718"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm0498-452"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20651"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/302200"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2008.02069.x"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.11.021"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2008.02256.x"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02375.x"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl203"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201966"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2009.01191.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2009.01191.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T17:57:27Z","timestamp":1695923847000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2009.01191.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1111\/j.1399-0004.2009.01191.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01191.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8]]}}}