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Article

Comparison of clinical and imaging features of cerebral small vessel disease associated with heterozygous HTRA1 and NOTCH3 mutations.

International journal of stroke : official journal of the International Stroke Society - 1 Jan 2026

Lee Yi-Chung, Chen Chih-Hao, Chou Ying-Tsen, Cheng Yu-Wen, Chung Chih-Ping, Chen Ying-Da, Chang Feng-Chi, Tang Sung-Chun, Liao Yi-Chu

Abstract excerpt

BACKGROUND: Heterozygous HTRA1 mutations are the second most common cause of monogenic dominant cerebral small vessel disease (HTRA1-AD-cSVD or CADASIL2), after cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) due to NOTCH3 cysteine-altering mutations. However, there have been few studies of cohorts of HTRA1-AD-cSVD and whether it can be differentiated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40607620
DOI: 10.1177/17474930251359110

Genes

HTRA1
NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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