{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T06:22:26Z","timestamp":1790144546709,"version":"4.0.1"},"reference-count":89,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"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":[[2024,9,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>The largest identified kindred worldwide with a single mutation causing autosomal-dominant Alzheimer\u2019s disease (ADAD) is a family from Antioquia, Colombia, carrying the Presenilin-1 ( PSEN1) E280A (Paisa) mutation. The majority of mutation carriers develop dementia, typically commencing in their late 30\u200as, with a median onset age of 49 years. Cognitive decline is a hallmark feature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>This review synthesizes the existing literature on neuropsychological assessments in PSEN1 E280A mutation carriers throughout their lifespan. We provide a comprehensive overview of cognitive outcomes in this unique population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We reviewed and integrated the published research, analyzing studies on neuropsychological assessments in PSEN1 E280A carriers. Our focus was on measures of verbal, semantic, episodic, and spatial memory, and encompassed other cognitive domains such as language, attention, visuospatial memory, and executive functioning.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Verbal, semantic, episodic, and spatial memory emerged as the most sensitive indicators of preclinical changes in PSEN1 E280A carriers. Inconsistencies were noted in findings from tests assessing language, attention, visuospatial memory, and executive functioning, suggesting potential limitations in detecting early cognitive changes in PSEN1 mutation carriers. Specific cognitive tasks developed for this population proved effective but underutilized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The review underscores the importance of continued test development tailored to detect early cognitive changes in PSEN1 E280A carriers, potentially enhancing ADAD screening. Furthermore, investigating ADAD mutations in children may identify early changes in AD and enhance our understanding of neuropsychological functioning across the lifespan. This synthesis provides valuable insights for researchers, clinicians, and policymakers engaged in the study and management of ADAD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jad-240360","type":"journal-article","created":{"date-parts":[[2024,8,30]],"date-time":"2024-08-30T11:14:29Z","timestamp":1725016469000},"page":"397-415","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Cognitive Outcomes in Autosomal-Dominant Alzheimer\u2019s Disease: A Comprehensive Review from a Colombian Kindred with the Presenilin-1 E280A Mutation"],"prefix":"10.1177","volume":"101","author":[{"given":"Averi","family":"Giudicessi","sequence":"first","affiliation":[{"name":"Department of Psychological and Brain Sciences, Boston University, Boston, MA, USA"},{"name":"Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 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Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Vila-Castelar","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Norton","sequence":"additional","affiliation":[{"name":"Gordon College, Department of Psychology, Wenham, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel C.","family":"Aguirre-Acevedo","sequence":"additional","affiliation":[{"name":"Grupo de Neurociencias de Antioquia, Facultad de Medicina, Medellin, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Tirado","sequence":"additional","affiliation":[{"name":"Grupo de Neurociencias de Antioquia, Facultad de Medicina, Medellin, Colombia"},{"name":"Hospital Pablo Tobon Uribe, Medellin, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yamile","family":"Bocanegra","sequence":"additional","affiliation":[{"name":"Grupo de Neurociencias de Antioquia, Facultad de Medicina, Medellin, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmarie","family":"Guzman-Velez","sequence":"additional","affiliation":[{"name":"Department of Psychological and Brain Sciences, Boston University, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Lopera","sequence":"additional","affiliation":[{"name":"Grupo de Neurociencias de Antioquia, Facultad de Medicina, Medellin, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Cronin-Golomb","sequence":"additional","affiliation":[{"name":"Department of Psychological and Brain Sciences, Boston University, Boston, MA, USA"},{"name":"Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yakeel T.","family":"Quiroz","sequence":"additional","affiliation":[{"name":"Department of Psychological and Brain Sciences, Boston University, Boston, MA, USA"},{"name":"Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA"},{"name":"Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,2,5]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1002\/alz.12068"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1017\/S1041610203008664"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1555115"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2015.00142"},{"key":"ref005","unstructured":"PSEN1 E280A (Paisa), ALZFORUM, 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