Public Health

Area of Science:

• Neurology
• Epidemiology
• Genetics

Background:

• Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic disorder.
• Understanding its epidemiological and clinical profile in diverse populations is essential.

Purpose of the Study:

• To investigate the epidemiological and clinical features of CADASIL in South Korea.
• To compare the prevalence of neurological and systemic conditions in CADASIL patients versus controls.

Main Methods:

• Analysis of newly diagnosed CADASIL patients and age/sex-matched controls from the National Health Information Database (2002-2022).
• Calculation of cumulative incidence by age, sex, and region.
• Comparison of prevalence for various neurological (e.g., Alzheimer's disease, stroke) and systemic conditions (e.g., diabetes mellitus, hypertension).

Main Results:

• CADASIL incidence was 1.86 per 100,000, peaking between 60-69 years, with higher rates in men and the Jeju region.
• CADASIL patients showed significantly higher prevalence of Alzheimer's disease, vascular dementia, stroke, and depression compared to controls.
• Increased frequency of diabetes mellitus and hyperlipidemia was observed in the CADASIL cohort, with earlier disease onset.

Conclusions:

• CADASIL presents a substantial disease burden in South Korea.
• Patients exhibit a higher prevalence of associated neurological and systemic conditions.
• Emphasizes the critical need for early CADASIL diagnosis and integrated management strategies.