|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy <b>(</b> CADASIL) caused by <i>NOTCH3</i> mutations vary between ethnicities and regions.
|
30656190 |
2019 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
To verify its sensitivity and specificity, we retrospectively applied our criteria to 83 ALSP cases who had CSF1R mutations (24 of these were analyzed at our institutions and the others were identified from the literature), 53 cases who had CSF1R mutation-negative leukoencephalopathies and 32 cases who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with NOTCH3 mutations.
|
28921817 |
2018 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These results indicate that cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) caused by NOTCH3 mutations is the most frequent adult leukoencephalopathy in our cohort.
|
29700822 |
2018 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement.
|
26308724 |
2015 |
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
This study suggests a functional link between NOTCH3 deficiency and pathogenesis of vascular leukoencephalopathies.
|
25870235 |
2015 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The experience in this case suggests that brain imaging is important in managing postoperative confusion, and any patient with diffuse leukoencephalopathy of unknown etiology may need to be tested for NOTCH3 mutations.
|
25959358 |
2015 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Some features were significantly (Fisher exact test p < 0.05) more frequent in CADASIL than in NOTCH3-negative patients: history of migraine (73 vs 39%), stroke before the age of 60 among relatives (71 vs 32%), severe leukoencephalopathy (94 vs 62%), white matter changes extended to the anterior temporal lobes (93 vs 45%), external capsule involvement (100 vs 50%), and presence of lacunar infarcts (100 vs 65%).
|
20038773 |
2010 |
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
This cerebral autosomal dominant arteriopathy with pontine infarcts and leukoencephalopathy is characterized by a special lesion pattern strikingly different from CADASIL.
|
19187480 |
2010 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The aim of the present study was to analyze the NOTCH3 gene in a large group of patients affected by leukoencephalopathy and to investigate the presence of genetic variants.
|
19006080 |
2009 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Therefore, we propose to consider a replacement for the name CADASIL that better reflects the morphological picture of the disease like, for example, cerebral autosomal dominant vasculopathy with subcortical infarcts and leukoencephalopathy (CADVaSIL) or, to preserve the commonly known acronym, cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy.
|
15068168 |
2004 |
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Genetically determined factors could play an important role in the development of WMC, and at least one disease (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - CADASIL) characterized by severe leukoencephalopathy exists with a determined genetic origin.
|
11901236 |
2002 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by recurrent subcortical ischemic strokes and dementia caused by mutations in the Notch3 gene.
|
11591842 |
2001 |
|
Leukoencephalopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These data indicate that the CADASIL Notch3 mutations were found in approximately 35% of familial cases with leukoencephalopathy, suggesting genetic heterogeneity of the disease.
|
11244211 |
2001 |
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Subacute VaD includes Binswanger's disease (BD), cerebral angiopathy with leukoencephalopathy and CADASIL.
|
10637940 |
1999 |
|
Leukoencephalopathy
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|