Cerebral small vessel disease related to a heterozygous missense mutation in HTRA1: A case report
This case suggests that individuals with the heterozygous HTRA1 mutation at V175E may also present clinical characteristics consistent with hereditary CSVD, expanding the recognized spectrum of HTRA1 mutations related to autosomal dominant small vessel disease.
Authors
- Lili Zeng (ORCID: https://orcid.org/0000-0002-1959-510X)
- Jieren Lian
- Yumin Zheng
- Gao YongPing
Institutions
- Shanghai Jiao Tong University (CN)
- Ruijin Hospital (CN)
Publication Details
- Journal
- Medicine
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1097/md.0000000000044128
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00