{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T05:38:32Z","timestamp":1767850712182,"version":"3.49.0"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,3,12]],"date-time":"2015-03-12T00:00:00Z","timestamp":1426118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007416","name":"Swedish Brain Power","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007416","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004047","name":"Karolinska Institutet","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004047","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004348","name":"Stockholm County Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004348","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Karolinska Institutet, Stockholm Medical Image Laboratory and Education"},{"name":"Swedish Alzheimer Foundation"},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"crossref"}]},{"name":"King Gustaf V"},{"name":"Queen Victoria Free Mason Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Intern Med"],"published-print":{"date-parts":[[2015,8]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Familial Alzheimer's disease (FAD<\/jats:styled-content>) resulting from gene mutations in PSEN<\/jats:styled-content>1<\/jats:italic>, PSEN<\/jats:styled-content>2<\/jats:italic> and APP<\/jats:styled-content><\/jats:italic> is associated with changes in the brain.<\/jats:p><\/jats:sec>Objective<\/jats:title>The aim of this study was to investigate changes in grey matter (GM<\/jats:styled-content>), white matter (WM<\/jats:styled-content>) and the cerebrospinal fluid (CSF<\/jats:styled-content>) in FAD<\/jats:styled-content>.<\/jats:p><\/jats:sec>Subjects<\/jats:title>Ten mutation carriers (MC<\/jats:styled-content>s) with three different mutations in PSEN<\/jats:styled-content>1<\/jats:italic> and APP<\/jats:styled-content><\/jats:italic> and 20 noncarriers (NC<\/jats:styled-content>s) were included in the study. Three MC<\/jats:styled-content>s were symptomatic and seven were presymptomatic (pre\u2010MC<\/jats:styled-content>s).<\/jats:p><\/jats:sec>Methods<\/jats:title>Whole\u2010brain GM<\/jats:styled-content> volume as well as fractional anisotropy (FA<\/jats:styled-content>) and mean diffusivity (MD<\/jats:styled-content>) using voxel\u2010based morphometry and tract\u2010based spatial statistics analyses, respectively, were compared between MC<\/jats:styled-content>s and NC<\/jats:styled-content>s. FA<\/jats:styled-content> and MD<\/jats:styled-content> maps were obtained from diffusion tensor imaging.<\/jats:p><\/jats:sec>Results<\/jats:title>A significant increase in MD<\/jats:styled-content> was found in the left inferior longitudinal fasciculus, cingulum and bilateral superior longitudinal fasciculus in pre\u2010MC<\/jats:styled-content>s compared with NC<\/jats:styled-content>s. After inclusion of the three symptomatic MC<\/jats:styled-content>s in the analysis, the regions became wider. The mean MD<\/jats:styled-content> of these regions showed significant negative correlation with the CSF<\/jats:styled-content> level of A\u03b242, and positive correlations with P\u2010tau181p<\/jats:sub> and T\u2010tau. No differences were observed in GM<\/jats:styled-content> volume and FA<\/jats:styled-content> between the groups.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>The results of this study suggest that FAD<\/jats:styled-content> gene mutations affect WM<\/jats:styled-content> diffusivity before changes in GM<\/jats:styled-content> volume can be detected. The WM<\/jats:styled-content> changes observed were related to changes in the CSF<\/jats:styled-content>, with similar patterns previously observed in sporadic Alzheimer's disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/joim.12352","type":"journal-article","created":{"date-parts":[[2015,1,31]],"date-time":"2015-01-31T06:52:36Z","timestamp":1422687156000},"page":"211-218","source":"Crossref","is-referenced-by-count":35,"title":["White matter changes in familial Alzheimer's disease"],"prefix":"10.1111","volume":"278","author":[{"given":"X.","family":"Li","sequence":"first","affiliation":[{"name":"Karolinska Institutet Department of Neurobiology, Care Science and Society (NVS) Division of Clinical Geriatrics Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Westman","sequence":"additional","affiliation":[{"name":"Karolinska Institutet Department of Neurobiology, Care Science and Society (NVS) Division of Clinical Geriatrics Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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