{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T08:49:31Z","timestamp":1774342171003,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,6,9]],"date-time":"2003-06-09T00:00:00Z","timestamp":1055116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP\u201017) is an autosomal dominant condition clinically characterized by behavioral, cognitive and motor disturbances. It was recently discovered that the majority of the FTDP\u201017 families carry missense or 5\u2032 splice mutations in the exons coding for the microtubule\u2010binding domains of the tau protein. However, in at least five FTDP\u201017 families, no such mutations could be identified. In the present study, we aimed at further investigate abnormalities in the <jats:italic>tau<\/jats:italic> gene in a Swedish FTDP\u201017 family, where no mutations in the <jats:italic>tau<\/jats:italic> gene previously have been identified. Initially, we searched for larger deletions by Southern blot hybridization. Furthermore, possible abnormal splicing events was investigated by RT\u2010PCR from brain tissue of affected individuals. In addition, we investigated the presence of mutations in other genes in the FTDP\u201017 candidate region on chromosome 17q21; Gamma\u2010tubulin, Glial Fibrillary Acid Protein (GFAP), Human dual specificity phosphatase tyrosine\/serine (VHR), Rap\u2010interacting protein 8 (RPIP8), P35, and the recently identified FTDCG1. In conclusion, no pathological changes in the <jats:italic>tau<\/jats:italic> gene were observed, neither was any mutations segregating with the disease detected in the investigated candidate genes. Further investigation of extended intron sequences or promoter regions of the <jats:italic>tau<\/jats:italic> gene and additional candidate genes on chromosome 17q21, therefore seems to be necessary in order to identify the additional causes of FTDP\u201017. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.20067","type":"journal-article","created":{"date-parts":[[2003,7,30]],"date-time":"2003-07-30T14:15:03Z","timestamp":1059574503000},"page":"112-118","source":"Crossref","is-referenced-by-count":13,"title":["Extended investigation of tau and mutation screening of other candidate genes on chromosome 17q21 in a Swedish FTDP\u201017 family"],"prefix":"10.1002","volume":"121B","author":[{"given":"Susanne","family":"Froelich Fabre","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Axelman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c5sa","family":"Almkvist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Basun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"Lannfelt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,6,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00158a027"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1997.00550170021010"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.131.5.1327"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1625"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1999.tb00550.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.22.13103"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.10.5598"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/35049061"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410606"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970725)74:4<380::AID-AJMG8>3.0.CO;2-T"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5892"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/exnr.2000.7613"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.105.3.729"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(89)90210-9"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(92)90117-V"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(99)00508-6"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(98)01217-4"},{"key":"e_1_2_5_19_1","first-page":"1","article-title":"Efficient DNA extractions for PCR from cells or blood. 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