|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified 9 potentially pathogenic mutations in the AD-causal genes APP, PSEN1, PSEN2, and 6 mutations in a group of non-AD dementia-causal genes including the FTD-causal gene GRN and the VaD-causal gene NOTCH3.
|
30954774 |
2019 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of genetic stroke and vascular dementia syndrome resulting from mutations in NOTCH3.
|
31680059 |
2019 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) is a cerebral small vascular disease caused by NOTCH3 gene mutation in vascular smooth muscle cells (VSMCs), leading to ischemic stroke and vascular dementia.
|
31376480 |
2019 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Vascular smooth muscle cells (SMCs) undergo a series of dramatic changes in CADASIL, the most common inherited cause of vascular dementia and stroke.
|
29931596 |
2018 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cerebral small vascular disease caused by NOTCH3 mutation-induced vascular smooth muscle cell (VSMC) degeneration, leading to ischemic stroke and vascular dementia.
|
29871518 |
2018 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common symptoms of CADASIL are small ischemic strokes and/or transient ischemic attacks and cognitive impairment, appearing in middle age, that may progress to frank vascular dementia.
|
29478611 |
2018 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The consequence of an unpaired cysteine residue in an EGFr domain is an increased multimerization tendency of mutant NOTCH3, leading to toxic accumulation of the protein in the (cerebro)vasculature, and ultimately reduced cerebral blood flow, recurrent stroke and vascular dementia.
|
26912635 |
2016 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NOTCH3 cause cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common monogenic cause of stroke and vascular dementia.
|
25604251 |
2015 |
|
Dementia, Vascular
|
0.100 |
Biomarker
|
disease |
BEFREE |
CADASIL is the most prominent inherited form of vascular dementia.
|
23587639 |
2013 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common monogenic cause of small-vessel disease leading to ischemic stroke and vascular dementia is the neurodegenerative syndrome cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is associated with mutations in the Notch 3 receptor.
|
21555590 |
2011 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Notch3 gene are the cause of CADASIL, a hereditary small vessel disease leading to stroke and vascular dementia.
|
18537053 |
2008 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NOTCH3 gene (NOTCH3) are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult-onset hereditary angiopathy leading to ischemic episodes, vascular dementia and other neurologic deficits.
|
16256149 |
2006 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations of the NOTCH3 gene and is a model of pure vascular dementia.
|
17008611 |
2006 |
|
Dementia, Vascular
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the EGF repeats of the human Notch 3 receptor lead to the vascular dementia disease Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
|
12482954 |
2002 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Notch3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an inherited small vessel disease leading to subcortical strokes and vascular dementia.
|
11901241 |
2002 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary angiopathy causing stroke and vascular dementia.
|
11706120 |
2001 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Notch3 mutations cause CADASIL, an increasingly recognized cause of subcortical ischemic stroke and vascular dementia in human adults.
|
11102981 |
2000 |
|
Dementia, Vascular
|
0.100 |
Biomarker
|
disease |
BEFREE |
The most common form of familial vascular dementia is considered to be CADASIL or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, which is now also increasingly manifest in the United Kingdom.
|
10818518 |
2000 |
|
Dementia, Vascular
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The discovery of CADASIL, a genetic form of VaD mapped to chromosome 19 as a mutation of the Notch 3 gene, opened research avenues into the pathogenesis of BD.
|
10637940 |
1999 |