{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:04:22Z","timestamp":1756425862591,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>The clinical course of a 60-year-old gentleman with a history of atypical migraine, recurrent encephalopathic episodes and progressive cognitive impairment is presented. He was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, a rare genetic disorder of the cerebral blood vessels caused by mutations in the <jats:italic>Notch 3<\/jats:italic> gene on chromosome 19. The diagnosis was confirmed by MRI, skin biopsy and genetic testing. His cognitive function has progressively deteriorated and he continues to receive supportive care provision. The course and review of the condition are highlighted.<\/jats:p>","DOI":"10.1136\/bcr-2012-007285","type":"journal-article","created":{"date-parts":[[2013,1,25]],"date-time":"2013-01-25T14:05:42Z","timestamp":1359122742000},"page":"bcr2012007285","source":"Crossref","is-referenced-by-count":3,"title":["Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a rare cause of dementia"],"prefix":"10.1136","volume":"2013","author":[{"given":"Thelma K","family":"Toni-Uebari","sequence":"first","affiliation":[{"name":"Old Age Psychiatry, Parklands Hospital, Basingstoke, Hampshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,1,25]]},"reference":[{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.1","first-page":"1105","article-title":"CADASIL: case report and literature review","volume":"19","author":"Katsafouros","year":"2008","journal-title":"Psychiatriki"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.2","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1212\/WNL.59.8.1134","article-title":"Diagnostic strategies in CADASIL","volume":"59","author":"Markus","year":"2002","journal-title":"Neurology"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.3","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.051847"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3988\/jcn.2010.6.1.1","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease","volume":"6","author":"Choi","year":"2010","journal-title":"Clin Neurol"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.5","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1161\/01.STR.30.6.1230","article-title":"The natural history of CADASIL: a pooled analysis of previously published cases","volume":"30","author":"Desmond","year":"1999","journal-title":"Stroke"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91557-5"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.7","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh282"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.8","doi-asserted-by":"crossref","first-page":"0009","DOI":"10.5692\/clinicalneurol.51.945","article-title":"The pathomechanism and treatment of CADASIL","volume":"51","author":"Uchino","year":"2011","journal-title":"Rinsho Shinkeigaku"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.9","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1007\/s10194-012-0426-9","article-title":"Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience","volume":"13:","author":"Donnini","year":"2012","journal-title":"J Headache Pain"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.10","doi-asserted-by":"crossref","first-page":"2144","DOI":"10.1212\/WNL.57.11.2144","article-title":"Acetazolamide for the treatment of migraine with aura in CADASIL","volume":"57","author":"Forteza","year":"2001","journal-title":"Neurology"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.11","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1212\/WNL.50.5.1505","article-title":"Acetazolamide-responsive migraine in CADASIL","volume":"50","author":"Weller","year":"1998","journal-title":"Neurology"},{"key":"2025082804261785000_2013.jan25_1.bcr2012007285.12","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70046-2"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-007285","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:27:01Z","timestamp":1756380421000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-007285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,25]]},"references-count":12,"alternative-id":["10.1136\/bcr-2012-007285"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-007285","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,1,25]]}}}