Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 4 of 4 for “"CADASIL"”.
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Unravelling the Genetics of Cerebral Small Vessel Disease
… subcortical infarcts and leukoencephalopathy (CADASIL) is caused by NOTCH3 variants, and the second most frequent, CADASIL type 2, by autosomal dominant HTRA1 variants. COL4A1/2 variants can cause small vessel stroke and intracerebral haemorrhage. This thesis investigates the genetics of CSVD …
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Blood-Brain Barrier Permeability and Inflammation in Cerebral Small Vessel Disease
… SVD patients, 20 monogenic SVD patients (CADASIL) and 20 healthy controls to this study. Results: BBB permeability in the white matter of the sporadic SVD group was significantly higher than control (p=0.001), with a significantly higher volume of focal hotspots (p=0.010). The focal …
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Fatigue in Cerebral Small Vessel Disease and its Relationship to Cognitive Behavioural Symptoms
… in around half of both the sporadic SVD and CADASIL groups. There were no clear associations between neuroimaging features and fatigue, although meta-analysis highlighted some preliminary associations with network disconnection. There was no association between fatigue and CNS inflammation as …
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Genetics of Cerebral Small Vessel Disease
… Subcortical Infarcts and Leukoencephalopathy (CADASIL), caused by mutations in the NOTCH3 gene. In recent years, other genes have also been found to cause familial SVD, such as COL4A1/A2, HTRA1, FOXC1 and TREX1. Genome wide association studies (GWAS) have also revealed loci associated with …