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 …
infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease …
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 …
requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal …
Heterozygous HTRA1 mutations in Taiwanese patients with cerebral small vessel disease
Background: Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is an autosomal recessive inherited cerebral small vessel …
leukoencephalopathy (CARASIL) is an autosomal recessive inherited cerebral small vessel …
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) …
leukoencephalopathy (CARASIL) is a hereditary cerebral small vessel disease (CSVD) …
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 …
leukoencephalopathy (CARASIL) is clinically characterized by early-onset dementia, stroke …
Novel heterozygous HTRA1 pathogenic variant found in a Chinese family with autosomal dominant cerebral small vessel Disease
C Wu, L Chen, S Ke - Annals of Indian Academy of Neurology, 2020 - journals.lww.com
Sir, Cerebral small vessel disease (CSVD) represents a heterogeneous group of disorders
leading to stroke and cognitive impairment. Although most of the cases are sporadic, familial …
leading to stroke and cognitive impairment. Although most of the cases are sporadic, familial …
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 …
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent …
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review
W Chen, Y Wang, S Huang, X Yang, L Shen… - Frontiers in …, 2022 - frontiersin.org
Background Homozygous or compound heterozygous mutations in the high-temperature
requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive …
requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive …
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 …
disease (CSVD) includes both symptomatic heterozygous HTRA1 variant carrier and …
Heterozygous HTRA1 mutations with mimicking symptoms of CARASIL in two families
YU Kono, K Nishioka, Y Li, YO Komatuzaki, Y Ito… - Clinical Neurology and …, 2018 - Elsevier
The term cerebral small vessel disease (SVD) refers to a group of pathological processes
with various etiologies that affect the small arteries, arterioles, venules, and capillaries of the …
with various etiologies that affect the small arteries, arterioles, venules, and capillaries of the …