{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:12:47Z","timestamp":1791295967891,"version":"4.1.0"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec>\n            <jats:title>Background and Purpose\u2014<\/jats:title>\n            <jats:p>\n              Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare form of nonhypertensive cerebral small-vessel disease caused by mutations in the\n              <jats:italic>HTRA1<\/jats:italic>\n              gene. CARASIL is characterized by early adulthood onset of subcortical infarcts, cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods\u2014<\/jats:title>\n            <jats:p>Description of the clinical, imaging, and genetic study of 2 siblings with CARASIL, with a brief comparative review of published non-Asian cases of the disease.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results\u2014<\/jats:title>\n            <jats:p>\n              Both patients exhibited the typical phenotype: cerebral small-vessel disease, spondylosis, and abnormal hair lost. Mutation screening was performed for\n              <jats:italic>NOTCH3<\/jats:italic>\n              and\n              <jats:italic>HTRA1<\/jats:italic>\n              genes. No mutations were found in\n              <jats:italic>NOTCH3<\/jats:italic>\n              . The study revealed the presence of a homozygous c.496C&gt;T substitution in\n              <jats:italic>HTRA1<\/jats:italic>\n              in both siblings.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion\u2014<\/jats:title>\n            <jats:p>This report highlights the need of considering this entity in the differential diagnosis of cerebral small-vessel disease in young patients, even in the non-Asian populations.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/strokeaha.114.006735","type":"journal-article","created":{"date-parts":[[2015,2,26]],"date-time":"2015-02-26T09:05:11Z","timestamp":1424941511000},"page":"1110-1112","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":37,"title":["Shifting the CARASIL Paradigm"],"prefix":"10.1161","volume":"46","author":[{"given":"In\u00eas","family":"Menezes Cordeiro","sequence":"first","affiliation":[{"name":"From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Gen\u00e9tica Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hip\u00f3lito","family":"Nzwalo","sequence":"additional","affiliation":[{"name":"From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Gen\u00e9tica Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"S\u00e1","sequence":"additional","affiliation":[{"name":"From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Gen\u00e9tica Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita Bastos","family":"Ferreira","sequence":"additional","affiliation":[{"name":"From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Gen\u00e9tica Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Alonso","sequence":"additional","affiliation":[{"name":"From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Gen\u00e9tica Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00eds","family":"Afonso","sequence":"additional","affiliation":[{"name":"From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Gen\u00e9tica Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Bas\u00edlio","sequence":"additional","affiliation":[{"name":"From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Gen\u00e9tica Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.5.817"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0801560"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-5949.2012.00373.x"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1177\/0300060513480926"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ff96ac"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000202"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.5137\/1019-5149.JTN.6226-12.1"},{"key":"e_1_3_2_9_2","first-page":"165","article-title":"Familial unusual encephalopathy of Binswanger\u2019s type without hypertension.","volume":"30","author":"Maeda S","year":"1976","unstructured":"Maeda S, Nakayama H, Isaka K, Aihara Y, Nemoto S. Familial unusual encephalopathy of Binswanger\u2019s type without hypertension. Folia Psychiatr Neurol Jpn. 1976;30:165\u2013177.","journal-title":"Folia Psychiatr Neurol Jpn"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318215281d"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1159\/000117096"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/1129-2377-14-98"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2012.11.003"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.106.475194"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304834"}],"container-title":["Stroke"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/STROKEAHA.114.006735","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T13:57:02Z","timestamp":1715608622000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/STROKEAHA.114.006735"}},"subtitle":["Report of a Non-Asian Family and Literature Review"],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1161\/STROKEAHA.114.006735"],"URL":"https:\/\/doi.org\/10.1161\/strokeaha.114.006735","relation":{},"ISSN":["0039-2499","1524-4628"],"issn-type":[{"value":"0039-2499","type":"print"},{"value":"1524-4628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4]]},"assertion":[{"value":"2014-10-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-01-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-02-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}