[HTML][HTML] 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 …

[HTML][HTML] Modeling blood–brain barrier pathology in cerebrovascular disease in vitro: current and future paradigms

AV Andjelkovic, SM Stamatovic, CM Phillips… - Fluids and Barriers of …, 2020 - Springer
The complexity of the blood–brain barrier (BBB) and neurovascular unit (NVU) was and still
is a challenge to bridge. A highly selective, restrictive and dynamic barrier, formed at the …

Systematic review of cerebral phenotypes associated with monogenic cerebral small‐vessel disease

E Whittaker, S Thrippleton, LYW Chong… - Journal of the …, 2022 - Am Heart Assoc
Background Cerebral small‐vessel disease (cSVD) is an important cause of stroke and
vascular dementia. Most cases are multifactorial, but an emerging minority have a …

[HTML][HTML] Genetic factors of cerebral small vessel disease and their potential clinical outcome

VV Giau, E Bagyinszky, YC Youn, SSA An… - International journal of …, 2019 - mdpi.com
Cerebral small vessel diseases (SVD) have been causally correlated with ischemic strokes,
leading to cognitive decline and vascular dementia. Neuroimaging and molecular genetic …

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 …

Genetically confirmed CARASIL: Case report with novel HTRA1 mutation and literature review

Z Yu, S Cao, A Wu, H Yue, C Zhang, J Wang, M Xia… - World neurosurgery, 2020 - Elsevier
Background Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is an extremely rare monogenic autosomal disease …

[HTML][HTML] Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

YM Li, W Jia, T Xin, YQ Fang - Frontiers in Genetics, 2023 - frontiersin.org
Background: Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is an autosomal recessive disorder characterized by …

CARASIL families from India with 3 novel null mutations in the HTRA1 gene

V Preethish-Kumar, H Nozaki, S Tiwari, S Vengalil… - Neurology, 2017 - AAN Enterprises
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL)(MIM 600142) is linked to homozygous mutations in the …

HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice

L Chuanfen, W Xiaoling, J Wen, C Bingzhen… - Brain and …, 2022 - Wiley Online Library
Aims Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is a life‐threatening, inherited, nonhypertensive arteriole …

A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: are we pointing towards a disease spectrum?

S Favaretto, M Margoni, L Salviati, L Pianese… - Journal of the …, 2019 - Elsevier
Cerebral small vessel disease (SVD) is recognized to be the leading cause of vascular
dementia. Although the most cases are sporadic, familial monogenic causes have been …