Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL

Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL

The project aims to retrospectively and prospectively analyze a population of CADASIL patients in order to study the natural history of the disease by correlating the symptom spectrum with genetic risk and specific neuroradiological and biological markers

- Stratifying patients according to their disease risk, this could contribute to the discovery of personalized therapeutic targets.

Inclusion criteria:

• patients of either sex older than 18 years of age;
• finding of a pathogenic mutation on genetic analysis of NOTCH3;
• in the absence of unambiguous mutation, presence of characteristic deposits (GOM) within small vessels at skin biopsy

Exclusion criteria:

• do not meet the diagnostic criteria of CADASIL;
• are unable to give consent for the study due to aphasic or cognitive impairment or because they are deceased at the time of enrollment and their next of kin refuse to give consent for study participation.