Identifying New Genes and Genetic Factors Causing CADASIL and related Stroke and Vascular Dementia Disorders

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CADASIL is a cerebral small vessel disease which is one of the most common heritable cause of stroke and vascular dementia in adults. Genetic diagnostic testing for NOTCH3 mutations causative of CADASIL only identifies mutations in ~20% of patients which suggests that additional genes and mutations are responsible for CADASIL. By utilising whole exome sequencing on CADASIL patients which have no causative NOTCH3 mutations, I aim to identify new genes that are causative of CADASIL.