{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:22:06Z","timestamp":1787026926500,"version":"build-2736575974"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T00:00:00Z","timestamp":1644364800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>\n                    Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary cerebral small vascular disease caused by a homozygous mutation in the high-temperature requirement A serine peptidase 1 (\n                    <jats:italic>HTRA1<\/jats:italic>\n                    ) gene. Cerebral microbleeds (CMBs) are increasingly being recognized as neuroimaging findings occurring with cerebrovascular disease and have different etiologies. Mild to moderate CMBs are not unusual in CARASIL, and they are observed to affect cortical and subcortical structures; in contrast, diffuse CMBs, especially in the cerebellum, are rare. In this case, we report a novel mutation of\n                    <jats:italic>HTRA1<\/jats:italic>\n                    in a 43-year-old woman whose imaging indicated multiple CMBs in all lobes, brain stem, and cerebellum. The amount and location of CMBs vary in CARASIL cases, and the potential cause is not fully understood. This study revealed that specific imaging findings of this patient may be related to a new genetic mutation.\n                  <\/jats:p>","DOI":"10.3389\/fneur.2022.818332","type":"journal-article","created":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T12:03:06Z","timestamp":1644494586000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: Diffuse Cerebral Microbleeds in Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy"],"prefix":"10.3389","volume":"13","author":[{"given":"Lan","family":"Wen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jichao","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieyi","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Congjun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiafei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaohua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangjian","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,2,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1056\/NEJMoa0801560","article-title":"Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease","volume":"360","author":"Hara","year":"2009","journal-title":"N Engl J Med."},{"key":"B2","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1212\/WNL.0000000000001803","article-title":"Characteristic features and progression of abnormalities on MRI for CARASIL","volume":"85","author":"Nozaki","year":"2015","journal-title":"Neurology."},{"key":"B3","doi-asserted-by":"publisher","first-page":"3447","DOI":"10.1161\/STROKEAHA.114.004236","article-title":"Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy","volume":"45","author":"Nozaki","year":"2014","journal-title":"Stroke."},{"key":"B4","doi-asserted-by":"publisher","first-page":"545","DOI":"10.3389\/fneur.2020.00545","article-title":"HTRA1-related cerebral small vessel disease: a review of the literature","volume":"11","author":"Uemura","year":"2020","journal-title":"Front 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patients with cerebral small vessel disease","volume":"49","author":"Lee","year":"2018","journal-title":"Stroke."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1110","DOI":"10.1161\/STROKEAHA.114.006735","article-title":"Shifting the CARASIL paradigm: report of a non-Asian family and literature review","volume":"46","author":"Menezes Cordeiro","year":"2015","journal-title":"Stroke."},{"key":"B10","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1159\/000477358","article-title":"A CARASIL patient from Americas with novel mutation and atypical features: case presentation and literature review","volume":"44","author":"Ibrahimi","year":"2017","journal-title":"Cerebrovasc Dis."},{"key":"B11","doi-asserted-by":"publisher","first-page":"2033","DOI":"10.1212\/WNL.0b013e3181ff96ac","article-title":"A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population","volume":"75","author":"Mendioroz","year":"2010","journal-title":"Neurology."},{"key":"B12","doi-asserted-by":"publisher","first-page":"E1693","DOI":"10.1073\/pnas.1500911112","article-title":"Loss of HtrA1-induced attenuation of TGF-beta signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis","volume":"112","author":"Liu","year":"2015","journal-title":"Proc Natl Acad Sci USA."},{"key":"B13","doi-asserted-by":"publisher","first-page":"7120","DOI":"10.1002\/jcp.29609","article-title":"HTRA1 expression profile and activity on TGF-beta signaling in HTRA1 mutation carriers","volume":"235","author":"Fasano","year":"2020","journal-title":"J Cell Physiol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1016\/S1474-4422(10)70104-6","article-title":"Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges","volume":"9","author":"Pantoni","year":"2010","journal-title":"Lancet Neurol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"2347","DOI":"10.1093\/brain\/awv155","article-title":"Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease","volume":"138","author":"Verdura","year":"2015","journal-title":"Brain."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.818332\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T12:03:08Z","timestamp":1644494588000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.818332\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,9]]},"references-count":15,"alternative-id":["10.3389\/fneur.2022.818332"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2022.818332","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,9]]},"article-number":"818332"}}