Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is clinically characterized by early-onset dementia, stroke …

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 …

Heterozygous missense HTRA1 mutations have been associated with an autosomal
dominant cerebral small vessel disease (CSVD) whereas the pathogenicity of heterozygous …

1990s, CADASIL appeared as an invariably severe condition with 60% of patients dead,
demented, or bedridden at the age of 60 years. 12 By contrast, healthy elderly mutation …

Genetic disorders with predominant central nervous system white matter abnormalities (CNS
WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 …

Background: Mutations in the high-temperature requirement A serine peptidase 1 (HTRA1)
cause cerebral autosomal recessive arteriopathy with subcortical infarcts and …

Background: Homozygous or compound heterozygous mutations in high temperature
requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal …

Background Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is an extremely rare monogenic autosomal disease …

Objective There is evidence showing both heterozygous HTRA1 and homozygous HTRA1
mutations as causal for familial cerebral small vessel disease (CSVD). The clinical and …

Background: Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is an autosomal recessive disorder characterized by …