{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T12:18:06Z","timestamp":1794485886433,"version":"4.9.1"},"reference-count":69,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T00:00:00Z","timestamp":1481241600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer\u2019s Disease"],"published-print":{"date-parts":[[2017,1,24]]},"abstract":"<jats:p>\n                    Overexpression of the amyloid precursor protein (APP) gene on chromosome 21 in Down syndrome (DS) has been linked to increased brain amyloid levels and early-onset Alzheimer\u2019s disease (AD). An elderly man with phenotypic DS and partial trisomy of chromosome 21 (PT21) lacked triplication of APP affording an opportunity to study the role of this gene in the pathogenesis of dementia. Multidisciplinary studies between ages 66\u201372 years comprised neuropsychological testing, independent neurological exams, amyloid PET imaging with\n                    <jats:sup>11<\/jats:sup>\n                    C-Pittsburgh compound-B (PiB), plasma amyloid-\u03b2 (A\u03b2) measurements, and a brain autopsy examination. The clinical phenotype was typical for DS and his intellectual disability was mild in severity. His serial neuropsychological test scores showed less than a 3% decline as compared to high functioning individuals with DS who developed dementia wherein the scores declined 17\u201328% per year. No dementia was detected on neurological examinations. On PiB-PET scans, the patient with PT21 had lower PiB standard uptake values than controls with typical DS or sporadic AD. Plasma A\u03b2\n                    <jats:sub>42<\/jats:sub>\n                    was lower than values for demented or non-demented adults with DS. Neuropathological findings showed only a single neuritic plaque and neurofibrillary degeneration consistent with normal aging but not AD. Taken together the findings in this rare patient with PT21 confirm the obligatory role of APP in the clinical, biochemical, and neuropathological findings of AD in DS.\n                  <\/jats:p>","DOI":"10.3233\/jad-160836","type":"journal-article","created":{"date-parts":[[2016,12,13]],"date-time":"2016-12-13T10:14:07Z","timestamp":1481624047000},"page":"459-470","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":224,"title":["Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer\u2019s Disease: The Role of APP"],"prefix":"10.1177","volume":"56","author":[{"given":"Eric","family":"Doran","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of California, Irvine Medical Center, Orange, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Keator","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Human Behavior, University 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