In:
Stroke, Ovid Technologies (Wolters Kluwer Health), Vol. 52, No. Suppl_1 ( 2021-03)
Abstract:
Introduction: CADASIL caused by p.R544C point mutation at exon 11 of NOTCH3 gene is reported to account for 5% of spontaneous intracerebral hemorrhage (ICH) in East Asian patients. We aim to investigate whether computed tomography (CT) features can identify NOTCH3 -related ICH. Method: This study enrolled patients with spontaneous ICH from a single center during 2008 to 2017. All patients were screened for NOTCH3 p.R544C mutation by polymerase chain reaction. Neuroimaging features of noncontrast CT scans, including burden of white matter lesion (WML, total score 0-4), degree of brain atrophy, number of lacunes, presence of juxtacortical WML, and lobar lacunes, were analyzed by the neuroradiologists who were blinded to the mutation status. Results: Of 323 cases with spontaneous ICH, 299 patients (mean age, 61.4±14.7; male, 67.6%; mean ICH volume 14.1±17.8 ml; ICH score 1.14±1.04 ) had available CT scan at stroke onset. Thirteen patients (4.3%) carried p.R544C mutations. The clinical features, stroke severity, hematoma size, and hemorrhagic location were comparable between p.R544C mutation carriers and noncarriers. On CT scan, patient with p.R544C mutation had higher WML score (2.77±1.69 vs. 1.63±1.50, P = 0.018) and were more likely to have predominant juxtacortical WML (69.2% vs. 17.8%, P 〈 0.001, Figure 1 ), which usually presented at the level of centrum semiovale ( Figure 2 ). In multivariable analysis, predominant juxtacortical WML was the only neuroimaging feature associated with p.R544C mutation (odds ratio 8.82, 95% CI, 2.74-28.4). Conclusion: In patients with spontaneous ICH, topographic distribution of WML can help in identifying potential NOTCH3 mutation-related ICH.
Type of Medium:
Online Resource
ISSN:
0039-2499
,
1524-4628
DOI:
10.1161/str.52.suppl_1.P420
Language:
English
Publisher:
Ovid Technologies (Wolters Kluwer Health)
Publication Date:
2021
detail.hit.zdb_id:
1467823-8
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