ArticleCNS neuroscience & therapeutics2017
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.
Article in CNS neuroscience & therapeutics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 51 citations in OpenAlex.
- Genetics of intracerebral hemorrhage.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- Diagnostic performance of "pons chocolate chip sign" in heterozygous HTRA1-related cerebral small vessel disease.BMC neurology · 2025Article
- CADASIL: A NOTCH3-associated cerebral small vessel disease.Journal of advanced research · 2024Review
- Progress in the Study of the Role and Mechanism of HTRA1 in Diseases Related to Vascular Abnormalities.International journal of general medicine · 2024Review
- Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.Research square · 2023Article
- Dualistic roles and mechanistic insights of macrophage migration inhibitory factor in brain injury and neurodegenerative diseases.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2023Review
- Heterozygous Pathogenic and Likely Pathogenic SymptomaticInternational journal of general medicine · 2023Review
- HeterozygousNeurology. Genetics · 2022Article
- Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.Molecular genetics & genomic medicine · 2022Review
- Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.Annals of clinical and translational neurology · 2022Article
- A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease.Journal of clinical laboratory analysis · 2022Article
- Clinically reversible ustekinumab-induced encephalopathy: case report and review of the literature.Therapeutic advances in neurological disorders · 2022Article
- Identified novel heterozygousFrontiers in genetics · 2022Article
- Case report: Two unique nonsense mutations inFrontiers in neurology · 2022Article
- Novel In-Frame Deletion inGenes · 2021Article
- Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.Molecular genetics & genomic medicine · 2021Article
- The role of genetics in neurodegenerative dementia: a large cohort study in South China.NPJ genomic medicine · 2021Article
- High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy.Frontiers in neurology · 2021Article
- A novel heterozygous HTRA1 mutation is associated with autosomal dominant hereditary cerebral small vessel disease.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsCerebral small vessel disease (SVD) is the leading cause of vascular dementia. Although the most of cases are sporadic, familial monogenic causes have been identified in a growing minority of patients. CADASIL, due to mutations of NOTCH3 gene, is the most common genetic SVD, and CARASIL, linked to HTRA1 gene mutations, is a rare but well known autosomal recessive SVD. Recently, also heterozygous HTRA1 mutations have been described in patients with familial SVD. To detect a genetic cause of familial SVD, we performed mutational analysis of HTRA1 gene in a large cohort of Italian NOTCH3-negative patients.
methodsWe recruited 142 NOTCH3-negative patients and 160 healthy age-matched controls. Additional control data were obtained from five pathogenicity prediction software.
resultsFive different HTRA1 heterozygous mutations were detected in nine patients from five unrelated families. Clinical phenotype was typical of SVD, and the onset was presenile. Brain magnetic resonance imaging (MRI) showed a subcortical leukoencephalopathy, with involvement of the external and internal capsule, corpus callosum, and multiple lacunar infarcts. Cerebral microbleeds were also seen, while anterior temporal lobes involvement was not present.
conclusionOur observation further supports the pathogenic role of the heterozygous HTRA1 mutations in familial SVD.
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