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Article

Autosomal dominant inheritance of a heterozygous mutation in HTRA1: A case report and literature review.

Medicine - 8 May 2026

Shu Jianzhong, Li Jinrong

Abstract excerpt

RATIONALE: Heterozygous mutations in the gene encoding HtrA serine protease 1 (HTRA1) can cause autosomal dominant cerebral small-vessel disease (CSVD), presenting with clinical features that differ slightly from other hereditary CSVD subtypes. Only a limited number of cases have been documented globally. PATIENT CONCERNS: A 51-year-old man presented with more than 2 years of left lower limb weakness, which had...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 42116316
DOI: 10.1097/MD.0000000000048528
PMCID: PMC13166807

Genes

HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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