Identifying new genes and genetic factors causative of CADASIL and related stroke and dementia disorders

CADASIL is a rare and severe neurological disease which causes recurrent strokes, dementia, and migraines. Mutations in the NOTCH3 gene are known to cause CADASIL, however, only ~20% of patients with a clinical presentation (phenotype) of CADASIL have a genetic diagnosis. By completing whole exome sequencing, bioinformatics and statistical investigations, other genes were investigated which may be causative of CADASIL or CADASIL symptoms. This work identified several genes and genetic factors which may be causing or contributing to new variations of CADASIL and provided novel insights into the potential molecular aetiology of other stroke and dementia syndromes