Objective: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from
Americas. Methods: Clinical presentation and neuroimaging were consistent with CARASIL …

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

Objectives To identify the underlying genetic defect for a consanguineous family with an
unusually high number of members affected by cerebral small vessel disease. Materials and …

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

CADASIL and CARASIL are hereditary small vessel diseases leading to vascular dementia.
CADASIL commonly begins with migraine followed by minor strokes in mid‐adulthood …

Background and Purpose—Cerebral autosomal recessive arteriopathy with subcortical
infarcts and leukoencephalopathy (CARASIL) is a rare form of nonhypertensive cerebral …

Our objective is to reported a Chinese CARASIL patient caused by novel compound
heterozygous mutations in HTRA1. Detailed clinical and neuroimaging examination were …

Background Biallelic pathogenic variants in HTRA1 cause CARASIL. More recently,
monoallelic variants have been associated with the autosomal dominant disorder …

Cerebral small vessel disease (CSVD) is a well-known cause of vascular dementia. Though
a majority of these cases are sporadic, familial monogenic causes are being frequently …

Objectives: The objective of this study was to clarify the characteristic brain MRI findings for
genetically diagnosed CARASIL (cerebral autosomal recessive arteriopathy with subcortical …