{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T11:37:37Z","timestamp":1792669057502,"version":"4.5.0"},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[1999,6]]},"abstract":"<jats:p>\n            <jats:italic>Background and Purpose<\/jats:italic>\n            \u2014Although numerous families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported, our understanding of the disease remains incomplete. Thus, we performed this study to investigate the phenotypic range and natural history of CADASIL.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Methods<\/jats:italic>\n            \u2014We performed a pooled analysis of previously published cases.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Results<\/jats:italic>\n            \u2014We identified 105 symptomatic patients in 33 families. Vascular risk factors were uncommon, with hypertension reported in only 8 patients. The mean age of symptom onset was 36.7\u00b112.9 years. Stroke or transient ischemic attack was an initial symptom in 45 patients, with a mean age of onset of 41.2\u00b19.2 years. Migraine was also a common initial symptom, reported by 42 patients at a younger mean age of 28.3\u00b111.7 years. Other initial symptoms included depression in 9 patients, cognitive impairment in 6 patients, and seizures in 3 patients. Regarding clinical course, 71 patients experienced a stroke or transient ischemic attack, and 52 of those patients had 1 or more recurrent ischemic events. Dementia was reported in 44 patients. Only 3 additional patients experienced migraine at a later time, while 13 additional patients developed depression. Six patients had seizures. Twenty-two of the 105 patients had died, with a mean age of death of 54.8\u00b110.6 years. Nineteen of those 22 patients had experienced a stroke or transient ischemic attack and 19 patients were demented.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Conclusions<\/jats:italic>\n            \u2014CADASIL typically becomes evident in early or middle adulthood with migraine or an ischemic event, later manifests itself through recurrent subcortical ischemic strokes leading to a stepwise decline and dementia, and results in reduced survival.\n          <\/jats:p>","DOI":"10.1161\/01.str.30.6.1230","type":"journal-article","created":{"date-parts":[[2011,6,17]],"date-time":"2011-06-17T20:08:03Z","timestamp":1308341283000},"page":"1230-1233","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":210,"title":["The Natural History of CADASIL"],"prefix":"10.1161","volume":"30","author":[{"given":"David W.","family":"Desmond","sequence":"first","affiliation":[{"name":"From the Departments of Neurology (D.W.D., J.T.M., T.L., J.P.M.), Radiology (S.C.), and Pathology (S.S.C.), Columbia University, College of Physicians and Surgeons, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan T.","family":"Moroney","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (D.W.D., J.T.M., T.L., J.P.M.), Radiology (S.C.), and Pathology (S.S.C.), Columbia University, College of Physicians and Surgeons, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Lynch","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (D.W.D., J.T.M., T.L., J.P.M.), Radiology (S.C.), and Pathology (S.S.C.), Columbia University, College of Physicians and Surgeons, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Chan","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (D.W.D., J.T.M., T.L., J.P.M.), Radiology (S.C.), and Pathology (S.S.C.), Columbia University, College of Physicians and Surgeons, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven S.","family":"Chin","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (D.W.D., J.T.M., T.L., J.P.M.), Radiology (S.C.), and Pathology (S.S.C.), Columbia University, College of Physicians and Surgeons, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. P.","family":"Mohr","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (D.W.D., J.T.M., T.L., J.P.M.), Radiology (S.C.), and Pathology (S.S.C.), Columbia University, College of Physicians and Surgeons, New York, NY."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_1_2","first-page":"961","volume":"24","year":"1955","unstructured":"Van Bogaert L. Enc\u00e9phalopathie sous-corticale progressive (Binswanger) \u00e0 \u00e9volution rapide chez deux soeurs. Med Hellen. 1955;24:961\u2013972.","journal-title":"Med Hellen"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00691704"},{"key":"e_1_3_3_3_2","first-page":"376","volume":"147","year":"1991","unstructured":"Davous P, Fallet-Bianco C. D\u00e9mence sous-corticale familiale avec leucoenc\u00e9phalopathie art\u00e9riopathique: observation clinico-pathologique. 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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): confirmation by cerebral biopsy in 2 cases. Clin Neuropathol. 1995;14:201\u2013206.","journal-title":"Clin Neuropathol"},{"key":"e_1_3_3_17_2","first-page":"927","volume":"66","year":"1995","unstructured":"Mayer M, Dichgans M, Gasser T, B\u00fcttner U, Uttner I, Straube A. Erbliche zerebrale Arteriopathie CADASIL: Beschreibung einer Familie. Nervenarzt. 1995;66:927\u2013932.","journal-title":"Nervenarzt"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380216"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.1.207"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00296354"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.59.6.579"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0303-8467(95)00068-U"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050528"},{"key":"e_1_3_3_24_2","unstructured":"Bonthius DJ Mathews KD Adams HP. CADASIL in a North American family: linkage to chromosome 19. Neurology. 1996;46(suppl):A211. Abstract."},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.60.2.235"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050498"},{"key":"e_1_3_3_27_2","unstructured":"Salloway S Stopa E. Subcortical dementia and depression in biopsy-proven CADASIL: pathologic and radiologic findings. Neurology. 1996;46(suppl):A326. Abstract."},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00272-9"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0033-3182(97)71452-X"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.5.1200"},{"key":"e_1_3_3_31_2","first-page":"910","volume":"37","year":"1997","unstructured":"Nishio T, Arima K, Eto K, Ogawa M, Sunohara N. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: report of an autopsied Japanese case [in Japanese]. Rinsho Shinkeigaku. 1997;37:910\u2013916.","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050700"},{"key":"e_1_3_3_33_2","unstructured":"Bourghol B Tillier JN Gaulier A Henin D Baudrimont M Tournier-Lasserve E Davous P. CADASIL: pr\u00e9sentation d\u2019une nouvelle famille avec observation anatomoclinique d\u2019un cas. Rev Neurol (Paris). 1998;154(suppl 1):1S52. Abstract."},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.3.844"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050277"},{"key":"e_1_3_3_36_2","first-page":"469","volume":"19","year":"1998","unstructured":"Glusker P, Horoupian DS, Lane B. Familial arteriopathic leukoencephalopathy: imaging and neuropathologic findings. 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