Genetic and clinical insights into CADASIL patients in Cyprus
Mai Alaraimi, Kousiappa Ioanna, Pitsas Giorgos, Papacostas Savvas S, Tanteles George A, Spanou Elena, Demetriou Eleni, Koupparis Andreas M · FENS Forum 2024
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by NOTCH3 gene mutations affecting cysteine residues in the Notch3 receptor's extracellular domain. The disease is characterized by recurrent strokes, cognitive decline, migraines with aura, epilepsy, gait disturbances, and psychiatric problems. This study investigated the clinical features and NOTCH3 mutations in Cypriot CADASIL patients to identify genotype-phenotype correlations. Nineteen genetically confirmed CADASIL patients (10 males,
ePoster · Neuroscience