Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Saana MönkäreLiina KuuluvainenJohanna SchleutkerLiisa MyllykangasMinna PöyhönenPublished in: Acta neurologica Scandinavica (2022)
This study revealed the genetic and clinical spectrum of CADASIL in the Finnish population. Sequencing of the whole NOTCH3 gene performing a gene-panel or exome sequencing is recommended when suspecting CADASIL.