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Article

Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Mar 2018

Zhang Wen-Ying, Xie Fei, Lu Pei-Lin

Abstract excerpt

Heterozygous HTRA1 mutations, recently, have been reported as a cause of autosomal dominant hereditary cerebral small vessel disease (CSVD). We herein describe clinical and neuroimaging findings in two familial CSVD with two different heterozygous HTRA1 mutations. Detailed clinical and neuroimaging examination were conducted in probands and their available family members. A next-generation sequencing-based...

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Source

Identifiers

PMID: 29305662
DOI: 10.1007/s10072-017-3231-z

Genes

HTRA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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