A case of leukoencephalopathy and small vessels disease caused by a novel HTRA1 homozygous mutation

T Gündüz, Y Demirkol, Ö Doğan, S Demir… - Journal of Stroke and …, 2019 - Elsevier
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is a heritable, rare small vessel disease, which is caused …

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 …

Case report: diffuse cerebral microbleeds in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

L Wen, J Yuan, S Li, J Zhao, C Li, J Li, Y Han… - Frontiers in …, 2022 - frontiersin.org
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is a hereditary cerebral small vascular disease caused by …

Brain MRI in monogenic cerebral small vessel diseases: a practical handbook

L Ulivi, M Cosottini, G Migaleddu… - Current Molecular …, 2022 - ingentaconnect.com
Monogenic cerebral small vessel diseases are a topic of growing interest, as several genes
responsible have been recently described, and new sequencing techniques such as Next …

[PDF][PDF] Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease

B Wilson, K Wilson, C Sudlow, J Wardlaw… - 2022 - pure.ed.ac.uk
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 …

Identifying new genes and genetic factors causative of CADASIL and related stroke and dementia disorders

PJ Dunn - 2022 - eprints.qut.edu.au
CADASIL is a rare and severe neurological disease which causes recurrent strokes,
dementia, and migraines. Mutations in the NOTCH3 gene are known to cause CADASIL …

Genetic Stroke Syndromes

AV Patel, CV Patel, RB Libman - Hybrid PET/MR Neuroimaging: A …, 2022 - Springer
Genetic stroke syndromes represent a small portion of stroke patients usually affecting
younger patients. Recognition of systemic manifestations of genetic disorders with stroke as …

[PDF][PDF] Vinnytsia National Pirogov Memorial Medical University Vinnytsia, Ukraine

IOFMINH GENE, ON CARASIL - … in human life”(April 13-15, 2022) …, 2022 - sci.ldubgd.edu.ua
CARASIL is a genetically determined disease related to vascular pathologies. A large
number of researchers have proven the presence of a mutation in the HTRA1 gene in …

Carasil and htra1: an early adulthood syndrome

SS Samuel, B Mishra… - UPI Journal of …, 2021 - uniquepubinternational.com
Abstract Cerebral Autosomal Recessive Arteriopathy Subcortical Infracts
Leukoencephalopathy (CARASIL), is an autosomal recessive disorder inherited by two …

[PDF][PDF] UDC 616.8-005 THE ROLE OF MUTATIONS OF THE HTRA1 GENE IN THE DEVELOPMENT OF CARASIL

LH Petrivna, SD Serhiyvna… - The 11th International …, 2022 - sci-conf.com.ua
Aim: To establish a link between the development of CARASIL and mutations in the High-
TemperatureRequirement A1 gene. Materials and methods: Processed and studied 20 full …