Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review
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DOI: 10.1002/mgg3.2032
Abstract: Biallelic HTRA1 pathogenic variants are associated with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent studies have indicated that heterozygous HTRA1 variants are related to autosomal dominant hereditary cerebral small vessel disease… read more here.
Keywords: variants related; heterozygous htra1; vessel disease; htra1 variants ... See more keywords
Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases
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DOI: 10.1212/nxg.0000000000200044
Abstract: Background and Objectives Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease caused by homozygous or compound heterozygous variations in the high-temperature requirement A serine peptidase 1 (HTRA1)… read more here.
Keywords: cause cerebral; heterozygous htra1; htra1; htra1 mutations ... See more keywords
Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.909131
Abstract: Background: Homozygous and compound heterozygous mutations in HTRA1 cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recently, heterozygous pathogenic variants in HTRA1 were described in patients with autosomal dominant cerebral small vessel… read more here.
Keywords: pathogenic variants; heterozygous htra1; dominant cerebral; cerebral small ... See more keywords