{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:44:58Z","timestamp":1761896698990,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,1,16]]},"abstract":"<jats:p>Down syndrome (DS) is caused by trisomy of chromosome 21. The average age of onset of Alzheimer\u2019s disease (AD) ranged from 50 to 55 years in DS, with early symptoms usually characterised by changes in behaviour and executive dysfunction. On the other hand, posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome characterised by progressive impairment of visual functions in the absence of visual deficits and a pattern of atrophy involving posterior cortex. This syndrome is mostly caused by AD pathology. We report the case of patient with DS who developed PCA. While atypical variants of AD are commonly associated with an early age at onset, all focal forms of AD may potentially appear in DS. Specifying the phenotype has an impact on the care of DS patients and could help us to know the evolution. It could also provide a better understanding of the underlying mechanisms of focal forms.<\/jats:p>","DOI":"10.1136\/bcr-2017-223108","type":"journal-article","created":{"date-parts":[[2018,2,8]],"date-time":"2018-02-08T07:20:25Z","timestamp":1518074425000},"page":"bcr-2017-223108","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Down syndrome with posterior cortical atrophy"],"prefix":"10.1136","volume":"2018","author":[{"given":"Claire","family":"Boutoleau-Bretonni\u00e8re","sequence":"first","affiliation":[{"name":"CHU de Nantes, CMRR Neurologie, Nantes, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amandine","family":"Pallardy","sequence":"additional","affiliation":[{"name":"CHU de Nantes, Service de M\u00e9decine Nucl\u00e9aire, Nantes, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,2,8]]},"reference":[{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.1","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1192\/S0007125000181152","article-title":"Mental disorders and adaptive behaviour in people with Down\u2019s syndrome","volume":"162","author":"Prasher","year":"1993","journal-title":"Br J Psychiatry"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2006.00842.x"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.3","doi-asserted-by":"publisher","DOI":"10.1348\/014466507X230967"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.4","unstructured":"In: Deloche G , Hannequin D , eds. DO 80 Epreuve de d\u00e9nomination orale d\u2019images. Paris, 1997."},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.5","doi-asserted-by":"crossref","unstructured":"Maillet D , Matharan F , Le Cl\u00e9siau H , et al . TNI-93: A New Memory Test for Dementia Detection in Illiterate and Low-Educated Patients. Arch Clin Neuropsychol 2016.doi:10.1093\/arclin\/acw065","DOI":"10.1093\/arclin\/acw065"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0813248106"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.7","doi-asserted-by":"publisher","DOI":"10.1002\/gps.1545"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.8","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1352\/1944-7558-120.1.3","article-title":"Variability of the aging process in dementia-free adults with Down syndrome","volume":"120","author":"Tsao","year":"2015","journal-title":"Am J Intellect Dev Disabil"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.9","doi-asserted-by":"crossref","first-page":"30","DOI":"10.2174\/1567205012666150921095724","article-title":"Clinical Assessment of Cognitive Decline in Adults with Down Syndrome","volume":"13","author":"Sabbagh","year":"2016","journal-title":"Curr Alzheimer Res"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2007.00956.x"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.11","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70289-7"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.psc.2015.01.009"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2011.03.005"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.14","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70090-0"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.15","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.1.139"},{"key":"2025082701553838000_2018.feb07_2.bcr-2017-223108.16","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.72.6.691"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-223108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:55:49Z","timestamp":1756284949000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-223108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,8]]},"references-count":16,"alternative-id":["10.1136\/bcr-2017-223108"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-223108","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,2,8]]}}}