{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T14:06:39Z","timestamp":1761401199399},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3356,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1995,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Vascular dementia is usually sporadic and associated with definite risk factors. Several cases also occur in a familial fashion, and may affect middle\u2010aged or even younger subjects. Recently, an autosomal dominant inheritance was demonstrated in two unrelated French families, the members of which were affected by storke\u2010like episodes culminating in progressive dementia. Genetic linkage analysis assigned the disease locus to chromosome 19q12. We report an additional kindred of Italian origin in which at least 16 subjects presented leukoencephalopathic alterations. Recurrent strokes, psychiatric disturbances, dementia, and in 2 members, tetraplegia and pseudobulbar palsy were the hallMarchks of this syndrome. Notably, 5 asymptomatic individuals had neuroradiological signs of leukoencephalopathy. Pathological examination of 1 subject revealed a widespread vasculopathy of the perforating arterioles, characterized by deposition of eosinophilic\u2010congophilic material that did not immunostain with antibodies against prion protein, \u03b2\u2010amyloid, cystatin C, transthyretin, or heat\u2010shock protein 70 and was similar to that described in the French families. Based on the maximum lod score, the most likely location for the disease locus was also mapped to chromosome 19q12, and found to coincide with the CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) locus. The present results confirm the existence of a nosologically distinct, autosomal dominant cerebrovascular disease, presenting with recurrent subcortical ischemic strokes independent of vascular risk factors.<\/jats:p>","DOI":"10.1002\/ana.410380216","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:25:54Z","timestamp":1104596754000},"page":"231-236","source":"Crossref","is-referenced-by-count":36,"title":["An italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)"],"prefix":"10.1002","volume":"38","author":[{"given":"Michele","family":"Ragno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Tournier\u2010Lasserve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario G.","family":"Fiori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Manca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Patrosso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Ferlini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Sirocchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Trojano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugues","family":"Chabriat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrizio","family":"Salvi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.5.1015"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.24.1.122"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00296749"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ng0393-256","article-title":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12","volume":"3","author":"Tournier\u2010Lasserve E","year":"1993","journal-title":"Nature Genet"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/359794a0"},{"key":"e_1_2_1_7_2","first-page":"1034","article-title":"Linkage studies in familial Alzheimer's disease: evidence for chromosome 19 linkage","volume":"48","author":"Pericak\u2010Vance MA","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8346443"},{"key":"e_1_2_1_9_2","first-page":"340","article-title":"Migraine h\u00e9mipl\u00e9gique familiale. 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