{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T04:03:57Z","timestamp":1746763437239,"version":"3.40.5"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,8]]},"DOI":"10.7759\/cureus.83725","type":"journal-article","created":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T12:55:57Z","timestamp":1746708957000},"source":"Crossref","is-referenced-by-count":0,"title":["A Very Rare Variant of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy (CADASIL) on the gnomAD Database With Variable Phenotypic Expression"],"prefix":"10.7759","author":[{"given":"Ikechukwu","family":"Chukwuocha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solomon","family":"Eigbe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baig","family":"Al-Moyeed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70127-9","article-title":"CADASIL","volume":"8","author":"Chabriat H","year":"2009","unstructured":"Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. CADASIL. Lancet Neurol. 2009, 8:643-53. 10.1016\/S1474-4422(09)70127-9","journal-title":"Lancet Neurol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159\/000507542","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-still to be considered in the presence of vascular risk factors","volume":"12","author":"Ganesan DN","year":"2020","unstructured":"Ganesan DN, Coste T, Venketasubramanian N. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-still to be considered in the presence of vascular risk factors. Case Rep Neurol. 2020, 12:196-201. 10.1159\/000507542","journal-title":"Case Rep Neurol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199709000-00001","article-title":"CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"56","author":"Ruchoux MM","year":"1997","unstructured":"Ruchoux MM, Maurage CA. CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol. 1997, 56:947-64. 10.1097\/00005072-199709000-00001","journal-title":"J Neuropathol Exp Neurol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh282","article-title":"Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients","volume":"127","author":"Opherk C","year":"2004","unstructured":"Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004, 127:2533-9. 10.1093\/brain\/awh282","journal-title":"Brain"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.115.010696","article-title":"Predictors of clinical worsening in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: prospective cohort study","volume":"47","author":"Chabriat H","year":"2016","unstructured":"Chabriat H, Herv\u00e9 D, Duering M, et al.. Predictors of clinical worsening in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: prospective cohort study. Stroke. 2016, 47:4-11. 10.1161\/STROKEAHA.115.010696","journal-title":"Stroke"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12266","article-title":"Changing clinical patterns and increasing prevalence in CADASIL","volume":"130","author":"Moreton FC","year":"2014","unstructured":"Moreton FC, Razvi SS, Davidson R, Muir KW. Changing clinical patterns and increasing prevalence in CADASIL. Acta Neurol Scand. 2014, 130:197-203. 10.1111\/ane.12266","journal-title":"Acta Neurol Scand"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jare.2024.01.001","article-title":"CADASIL: a NOTCH3-associated cerebral small vessel disease","volume":"66","author":"Yuan L","year":"2024","unstructured":"Yuan L, Chen X, Jankovic J, Deng H. CADASIL: a NOTCH3-associated cerebral small vessel disease. J Adv Res. 2024, 66:223-35. 10.1016\/j.jare.2024.01.001","journal-title":"J Adv Res"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2019-229609","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) presenting with stroke in a young man","volume":"12","author":"Dunphy L","year":"2019","unstructured":"Dunphy L, Rani A, Duodu Y, Behnam Y. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) presenting with stroke in a young man. BMJ Case Rep. 2019, 12:229609. 10.1136\/bcr-2019-229609","journal-title":"BMJ Case Rep"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.radcr.2021.08.023","article-title":"Cadasil syndrome: a case report with a literature review","volume":"16","author":"Lahkim M","year":"2021","unstructured":"Lahkim M, Laamrani FZ, Andour H, Gharbaoui Y, Sanhaji L, El-Fenni J, En-Nouali H. Cadasil syndrome: a case report with a literature review. Radiol Case Rep. 2021, 16:3540-3. 10.1016\/j.radcr.2021.08.023","journal-title":"Radiol Case Rep"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000270","article-title":"CADASIL affecting a black African man","volume":"4","author":"Vlok L","year":"2018","unstructured":"Vlok L, Brey N. CADASIL affecting a black African man. Neurol Genet. 2018, 4:e270. 10.1212\/NXG.0000000000000270","journal-title":"Neurol Genet"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2023.1203985","article-title":"Lifelong cerebrovascular disease burden among CADASIL patients: analysis from a global health research network","volume":"14","author":"Pan AP","year":"2023","unstructured":"Pan AP, Potter T, Bako A, Tannous J, Seshadri S, McCullough LD, Vahidy FS. Lifelong cerebrovascular disease burden among CADASIL patients: analysis from a global health research network. Front Neurol. 2023, 14:1203985. 10.3389\/fneur.2023.1203985","journal-title":"Front Neurol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12181","article-title":"CADASIL and CARASIL","volume":"24","author":"Tikka S","year":"2014","unstructured":"Tikka S, Baumann M, Siitonen M, et al.. CADASIL and CARASIL. Brain Pathol. 2014, 24:525-44. 10.1111\/bpa.12181","journal-title":"Brain Pathol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2020.00321","article-title":"Pathophysiological mechanisms and potential therapeutic targets in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)","volume":"11","author":"Locatelli M","year":"2020","unstructured":"Locatelli M, Padovani A, Pezzini A. Pathophysiological mechanisms and potential therapeutic targets in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Front Pharmacol. 2020, 11:321. 10.3389\/fphar.2020.00321","journal-title":"Front Pharmacol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.31887\/DCNS.2007.9.2\/hchabriat","article-title":"Neuropsychiatric manifestations in CADASIL","volume":"9","author":"Chabriat H","year":"2007","unstructured":"Chabriat H, Bousser MG. Neuropsychiatric manifestations in CADASIL. Dialogues Clin Neurosci. 2007, 9:199-208. 10.31887\/DCNS.2007.9.2\/hchabriat","journal-title":"Dialogues Clin Neurosci"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3988\/jcn.2023.19.1.12","article-title":"Update on the epidemiology, pathogenesis, and biomarkers of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"19","author":"Yamamoto Y","year":"2023","unstructured":"Yamamoto Y, Liao YC, Lee YC, Ihara M, Choi JC. Update on the epidemiology, pathogenesis, and biomarkers of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Clin Neurol. 2023, 19:12-27. 10.3988\/jcn.2023.19.1.12","journal-title":"J Clin Neurol"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.17305\/bjbms.2015.247","article-title":"Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)","volume":"15","author":"Stojanov D","year":"2015","unstructured":"Stojanov D, Vojinovic S, Aracki-Trenkic A, Tasic A, Benedeto-Stojanov D, Ljubisavljevic S, Vujnovic S. Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Bosn J Basic Med Sci. 2015, 15:1-8. 10.17305\/bjbms.2015.247","journal-title":"Bosn J Basic Med Sci"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccb.2024.100227","article-title":"Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: a systematic review","volume":"6","author":"Boston G","year":"2024","unstructured":"Boston G, Jobson D, Mizuno T, Ihara M, Kalaria RN. Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: a systematic review. Cereb Circ Cogn Behav. 2024, 6:100227. 10.1016\/j.cccb.2024.100227","journal-title":"Cereb Circ Cogn Behav"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1042\/CS20201412","article-title":"Peripheral arteriopathy caused by Notch3 gain-of-function mutation involves ER and oxidative stress and blunting of NO\/sGC\/cGMP pathway","volume":"135","author":"Neves KB","year":"2021","unstructured":"Neves KB, Morris HE, Alves-Lopes R, et al.. Peripheral arteriopathy caused by Notch3 gain-of-function mutation involves ER and oxidative stress and blunting of NO\/sGC\/cGMP pathway. Clin Sci (Lond). 2021, 135:753-73. 10.1042\/CS20201412","journal-title":"Clin Sci (Lond)"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1997.tb00224.x","article-title":"CADASIL: skin biopsy allows diagnosis in early stages","volume":"95","author":"Ebke M","year":"1997","unstructured":"Ebke M, Dichgans M, Bergmann M, Voelter HU, Rieger P, Gasser T, Schwendemann G. CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand. 1997, 95:351-7. 10.1111\/j.1600-0404.1997.tb00224.x","journal-title":"Acta Neurol Scand"},{"key":"ref20","unstructured":"National Institute of Neurological Disorders and Stroke. CADASIL. Accessed. 2024 May 7: https:\/\/www.ninds.nih.gov\/health-information\/disorders\/cadasil."},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopha.2021.111557","article-title":"Genetics, pathophysiology, diagnosis, treatment, management, and prevention of migraine","volume":"139","author":"Khan J","year":"2021","unstructured":"Khan J, Asoom LI, Sunni AA, et al.. Genetics, pathophysiology, diagnosis, treatment, management, and prevention of migraine. Biomed Pharmacother. 2021, 139:111557. 10.1016\/j.biopha.2021.111557","journal-title":"Biomed Pharmacother"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038\/ng0393-256","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12","volume":"3","author":"Tournier-Lasserve E","year":"1993","unstructured":"Tournier-Lasserve E, Joutel A, Melki J, et al.. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 1993, 3:256-9. 10.1038\/ng0393-256","journal-title":"Nat Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/354541-a-very-rare-variant-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leucoencephalopathy-cadasil-on-the-gnomad-database-with-variable-phenotypic-expression","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T12:55:58Z","timestamp":1746708958000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/354541-a-very-rare-variant-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leucoencephalopathy-cadasil-on-the-gnomad-database-with-variable-phenotypic-expression"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,8]]},"references-count":22,"URL":"https:\/\/doi.org\/10.7759\/cureus.83725","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,5,8]]}}}