{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T07:19:32Z","timestamp":1776151172130,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T00:00:00Z","timestamp":1658102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["NTUH 111\u2010S0185"],"award-info":[{"award-number":["NTUH 111\u2010S0185"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["NTUMED 109F005\u2010110\u2010O"],"award-info":[{"award-number":["NTUMED 109F005\u2010110\u2010O"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>The <jats:italic>NOTCH3<\/jats:italic> mutation is a common cause of hereditary cerebral small vessel disease (CSVD) and may be a cause of spontaneous intracerebral haemorrhage (ICH). The aim was to investigate the clinical\/imaging features for identifying the <jats:italic>NOTCH3<\/jats:italic>\u2010mutation\u2010related ICH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study was based on a cohort of 749 CSVD patients in Taiwan who received next\u2010generation sequencing of CSVD genes including <jats:italic>NOTCH3<\/jats:italic>. Patients with a history of ICH (<jats:italic>n<\/jats:italic>\u00a0=\u00a0206) were included for analysis. The CSVD neuroimaging markers were compared between the patients with <jats:italic>NOTCH3<\/jats:italic> and those without known genetic mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After excluding patients with other causes of ICH (structural lesions, systemic\/medication related or amyloid angiopathy) and those without neuroimaging, 45 <jats:italic>NOTCH3<\/jats:italic> mutation patients and 109 nongenetic ICH patients were included. The <jats:italic>NOTCH3<\/jats:italic> mutation patients were more likely to have thalamic haemorrhage, a family history of stroke and more severe CSVD neuroimaging markers. A five\u2010point <jats:italic>NOTCH3<\/jats:italic>\u2010ICH score was constructed and consisted of a history of stroke in siblings, thalamic haemorrhage, any deep nuclei lacunae, any hippocampal cerebral microbleed (CMB) and a thalamic CMB &gt;5 (one point for each). A score\u2009\u22652 had a sensitivity of 88.9% and a specificity of 64.2% in identifying the <jats:italic>NOTCH3<\/jats:italic> mutation. The <jats:italic>NOTCH3<\/jats:italic> mutation patients had a higher risk of recurrent stroke (9.1 vs. 4.5 per 100 person\u2010years, log\u2010rank <jats:italic>p<\/jats:italic>\u00a0=\u00a00.03) during follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The patients with <jats:italic>NOTCH3<\/jats:italic>\u2010mutation\u2010related ICH had a higher burden of CMBs in the hippocampus\/thalamus and a higher recurrent stroke risk. The <jats:italic>NOTCH3<\/jats:italic>\u2010ICH score may assist in identifying genetic causes of ICH.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15485","type":"journal-article","created":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T13:48:27Z","timestamp":1656942507000},"page":"3243-3254","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Comparison of clinical and neuroimaging features between <scp>NOTCH3<\/scp> mutations and nongenetic spontaneous intracerebral haemorrhage"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1258-8775","authenticated-orcid":false,"given":"Chih\u2010Hao","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yung\u2010Tsai","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of 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