{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:09:29Z","timestamp":1762495769340,"version":"build-2065373602"},"reference-count":54,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T00:00:00Z","timestamp":1733788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["P30AG066519"],"award-info":[{"award-number":["P30AG066519"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["alz-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Alzheimer's &amp;amp; Dementia"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>INTRODUCTION<\/jats:title>\n                    <jats:p>This study investigated the impact of trisomy 21 mosaicism (mT21) on Alzheimer's disease (AD) neuropathology in a well\u2010characterized clinical case described by Ringman et\u00a0al.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>We describe AD neuropathology in mT21 including amyloid beta, phosphorylated tau, astrogliosis, microgliosis, \u03b1\u2010synuclein, and TAR DNA\u2010binding protein 43 (TDP\u201043) in cerebral cortex, hippocampal subregions, and amygdala using immunohistochemistry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>We observed high AD neuropathologic change with a score of A3B3C3. In addition, there was widespread astrogliosis, cerebral amyloid angiopathy, and perivascular space widening throughout the brain. Lewy bodies and neurites were noted in the amygdala only and no TDP\u201043 was observed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>DISCUSSION<\/jats:title>\n                    <jats:p>The findings in this case report highlight that mT21 is sufficient to induce AD neuropathology and early\u2010onset dementia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>HIGHLIGHTS<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Trisomy 21 mosaicism (mT21) occurs when three copies of chromosome 21 are present in some but not all somatic cells in an individual. mT21 accounts for \u2248 2% of people diagnosed with Down syndrome (DS).<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Immunohistochemical identification of amyloid beta, tau, astrocytes, microglia, \u03b1\u2010synuclein, and TAR DNA\u2010binding protein 43 show that Alzheimer's disease (AD) pathology in mT21 is similar to full trisomy 21.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>The findings in this case report highlight that mT21 is sufficient to induce AD neuropathology and early\u2010onset dementia.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/alz.14394","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T06:27:13Z","timestamp":1733812033000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Neuropathology of trisomy 21 mosaicism in a case with early\u2010onset dementia"],"prefix":"10.1002","volume":"21","author":[{"given":"Phong T.","family":"Ngo","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of California, Irvine  Irvine California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesse R.","family":"Pascual","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of California, Irvine  Irvine California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sierra","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of California, Irvine  Irvine California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher K.","family":"Williams","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine University of California Los Angeles  Los 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