HTRA1-related autosomal dominant cerebral small vessel disease

JY Liu, YC Zhu, LX Zhou, YP Wei, CH Mao… - Chinese Medical …, 2021 - mednexus.org
Background: Homozygous or compound heterozygous mutations in high temperature
requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal …

Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees

T Yao, J Zhu, X Wu, X Li, Y Fu, Y Wang… - Neurology …, 2022 - AAN Enterprises
Background and Objectives Cerebral autosomal recessive arteriopathy with subcortical
infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease …

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease

SY Xu, HJ Li, S Li, QQ Ren, JL Liang… - International Journal of …, 2023 - Taylor & Francis
High temperature requirement serine peptidase A1 (HTRA1) related cerebral small vessel
disease (CSVD) includes both symptomatic heterozygous HTRA1 variant carrier and …

Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review

H Zhou, B Jiao, Z Ouyang, Q Wu… - Molecular Genetics & …, 2022 - Wiley Online Library
Background Biallelic HTRA1 pathogenic variants are associated with autosomal recessive
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent …

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature

M Uemura, H Nozaki, T Kato, A Koyama… - Frontiers in …, 2020 - frontiersin.org
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is clinically characterized by early-onset dementia, stroke …

Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation

J Ito, H Nozaki, Y Toyoshima, T Abe, A Sato… - …, 2018 - Wiley Online Library
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is a hereditary cerebral small vessel disease (CSVD) …

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

W Zhang, F Xie, P Lu - Neurological Sciences, 2018 - Springer
Heterozygous HTRA1 mutations, recently, have been reported as a cause of autosomal
dominant hereditary cerebral small vessel disease (CSVD). We herein describe clinical and …

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

E Verdura, D Herve, E Scharrer, MM Amador… - Brain, 2015 - academic.oup.com
Cerebral small vessel disease represents a heterogeneous group of disorders leading to
stroke and cognitive impairment. While most small vessel diseases appear sporadic and …

Two unique mutations in HTRA1-related cerebral small vessel disease in north America and africa and literature review

T Shang, M Pinho, D Ray, A Khera - Journal of Stroke and Cerebrovascular …, 2021 - Elsevier
Objective To describe and compare two cases of North American and African patients who
were diagnosed with HTRA1-related cerebral small vessel disease (CSVD) with …

Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease

YC Lee, CP Chung, NC Chao, JL Fuh, FC Chang… - Stroke, 2018 - Am Heart Assoc
Background and Purpose—Homozygous and compound heterozygous mutations in the
high temperature requirement serine peptidase A1 gene (HTRA1) cause cerebral autosomal …