ABSTRACT NUMBER: ESOC2026A2429 CLINICAL AND GENETIC FEATURES OF CADASIL IN TENERIFE: A CASE SERIES FROM A STROKE CLINIC

Abstract Background and aims Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopaty (CADASIL) is the most frequent monogenic cause of ischaemic stroke an cognitive impairment in young adults caused by mutation of the NOTCH3 gene. A particularly high prevalence has been described in Gran Canaria due to a suspected founder effect (p.Arg207Cys mutation), but we lack data from neighboring islands. Methods We designed a retrospective study including all genetically confirmed CADASIL patients assessed in our stroke clinic in the North of Tenerife between 2022-2025. Demographic characteristics, NOTCH3 mutation, clinical features, vascular risk factors and functional outcomes were collected. Results 18 patients from 12 families were included. 83% were female, mean age 59 (34-87). We identified 7 different NOTCH3 pathogenic variants with p.Arg207Cys being the most frequent (10 patients across 6 families). Dyslipidemia (39%), Hypertension (22%), Diabetes (22%) and smoking (17%) were the most frequent vascular risk factors. 10 patients described a history of headaches. Cognitive impairment was identified in 3 patients: 2 early onset (before 60, pArg110Cys mutation) and 1 later onset (before 80, pArg207Cys mutation). 10 patients reported transient neurological symptoms with or without headache, without evidence of acute ischemic stroke. All patients had vascular lesions in MRI, only 2 had a history of symptomatic lacunar ischaemic stroke. 83% were functionally independent. Conclusions Our series shows CADASIL heterogeneity in the north of Tenerife, although a high prevalence of pArg207Cys pathogenic variant was found. Transient symptoms and headache history were common, while symptomatic stroke was infrequent. Early cognitive impairment was uncommon and appeared mutation-dependent. Conflict of interest Nothing to disclose