FROM ASYMPTOMATIC CARRIERS TO CADASIL: CONTEXT-DEPENDENT PHENOTYPIC VARIABILITY OF THE NOTCH3 P.ARG1231CYS VARIANT ACROSS THREE EUROPEAN COHORTS AND POTENTIAL IMPLICATIONS OF LDL CHOLESTEROL

Background: CADASIL caused by cysteine-altering NOTCH3 variants, the most frequent hereditary cerebral small vessel disease worldwide, is characterized by marked phenotypic variability. Mutation location within the EGFr domains of the NOTCH3 receptor has emerged as a key determinant of this variability. We investigated phenotypic variability and potential modifiers of CADASIL expression by comparing individuals harbouring the same pathogenic NOTCH3 variant across distinct recruitment settings in three European countries. Methods: We compared clinical features, MRI markers, and cardiovascular r

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