{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T05:43:01Z","timestamp":1780638181731,"version":"3.54.1"},"reference-count":23,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T00:00:00Z","timestamp":1627948800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Stroke Vasc Neurol"],"accepted":{"date-parts":[[2021,7,11]]},"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:sec>\n                  <jats:title>Background and purpose<\/jats:title>\n                  <jats:p>\n                     <jats:italic>NOTCH3<\/jats:italic> p.R544C mutation accounts for 5% of spontaneous intracerebral haemorrhage (ICH) in East Asian patients. We investigated whether certain CT features are associated with <jats:italic>NOTCH3<\/jats:italic>-related ICH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Patients with spontaneous ICH from a prospective stroke registry were screened for <jats:italic>NOTCH3<\/jats:italic> p.R544C mutation. The neuroimaging features on the initial non-contrast CT scans selected to predict <jats:italic>NOTCH3<\/jats:italic> p.R544C mutation, including burden of white matter lesion (WML), degree of brain atrophy, number of lacunes, prominent juxtacortical WML and prominent lobar lacunes, were analysed by neuroradiologists blinded to the mutation status.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of 299 patients with spontaneous ICH (mean age, 61 years; male, 68%; ICH volumes, 14.1\u00b117.8 mL), 13 patients (4.3%) carried <jats:italic>NOTCH3<\/jats:italic> p.R544C mutation. The clinical features, haematoma size and location were similar between <jats:italic>NOTCH3<\/jats:italic> p.R544C mutation carriers and non-carriers. The CT scan revealed that patients with <jats:italic>NOTCH3<\/jats:italic> p.R544C mutation had more severe WML and more frequently had prominent juxtacortical WML (69.2% vs 17.8%, p&lt;0.001), and the effects were not driven by ageing as seen in patients without mutation. Prominent juxtacortical WML (area under receiver operating characteristic curve=0.76) outperformed the total WML score and prominent lobar lacunes and significantly predicted <jats:italic>NOTCH3<\/jats:italic> p.R544C mutation in a multivariable-adjusted model (OR, 20.9; 95% CI 4.94 to 88.6).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>In patients with spontaneous ICH, the severity and topographic distribution of WML can help in identifying potential <jats:italic>NOTCH3<\/jats:italic> mutation-related ICH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/svn-2021-001020","type":"journal-article","created":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T12:06:37Z","timestamp":1627992397000},"page":"38-46","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Prominent juxtacortical white matter lesion hallmarks <i>NOTCH3<\/i>-related intracerebral haemorrhage"],"prefix":"10.1136","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1258-8775","authenticated-orcid":false,"given":"Chih-Hao","family":"Chen","sequence":"first","affiliation":[{"name":"Neurology, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao-Chia","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Wen","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital Hsinchu Branch, Hsinchu, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Fang","family":"Chen","sequence":"additional","affiliation":[{"name":"Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Chun","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiann-Shing","family":"Jeng","sequence":"additional","affiliation":[{"name":"Neurology, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,8,3]]},"reference":[{"key":"2025082410394828000_7.1.38.1","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1212\/CON.0000000000000672","article-title":"Intracerebral 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profiles","volume":"10","author":"Liao","year":"2015","journal-title":"PLoS One"},{"key":"2025082410394828000_7.1.38.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jstrokecerebrovasdis.2011.07.002"},{"key":"2025082410394828000_7.1.38.10","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1002\/acn3.690","article-title":"Prevalence and clinical characteristics of stroke patients with p.R544C NOTCH3 mutation in Taiwan","volume":"6","author":"Tang","year":"2019","journal-title":"Ann Clin Transl 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