K-CADASIL is a 10-year prospective study of 500 Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic brain disease that causes stroke and dementia. The investigators will track symptoms, brain scans, memory tests, and gene information to understand disease progression in Koreans and identify better treatments. Participants will visit clinics regularly for check-ups and blood tests. This study aims to help improve care for CADASIL patients and families worldwide.
Age ≥ 19 years
CADASIL suspected or confirmed by genetic testing (NOTCH3 mutation)
Able to provide written informed consent (participant or legally authorized representative)
Contraindication to MRI (claustrophobia, metal implants, pacemaker)
Acute ischemic or hemorrhagic stroke within 180 days prior to enrollment
Korean adults (≥19 years) with genetically confirmed or clinically suspected CADASIL (NOTCH3 mutation). Multicenter prospective cohort recruited from 28 hospitals across Korea. Approximately 500 participants will be followed for 10 years.
Cohort
Prospective
Not listed
New-onset stroke events
Number of Participants with New-onset Stroke Events, Date of Occurrence, Subtype, Location, and National Institutes of Health Stroke Scale \[NIHSS\] Score.
New-onset mild cognitive impairment (MCI) or dementia
Number of Participants with New-onset MCI or Dementia, Date of Onset, and Dementia Subtype (Alzheimer Disease Dementia, Vascular Dementia, Mixed Dementia)
Cerebral small vessel disease burden on MRI
Periventricular White Matter Hyperintensity (WMH) Fazekas Scale (0-3; higher scores indicate greater severity), Deep WMH Fazekas Scale (0-3; higher scores indicate greater severity), Number of Lacunes, Number of Cerebral Microbleeds, Normalized White Matter Hyperintensity (nWMH) Volume (%)
Cognitive function composite score changes
Korean-Trail Making Test-Elderly's Version (K-TMT-E) Standard Score (higher scores indicate better performance), Korean-Mini Mental State Examination (K-MMSE) Standard Score (0-30; higher scores indicate better cognitive function), Clinical Dementia Rating (CDR) Global Score (0-3; higher scores indicate worse dementia severity), Korean version Montreal Cognitive Assessment (K-MoCA) Score (0-30; higher scores indicate better cognitive function)
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Jeju National University Hospital
Lead sponsor
Asan Medical Center
Collaborator
Chonnam National University Hospital
Collaborator
Chungbuk National University Hospital
Collaborator
Dong-A University Hospital
Collaborator
Ewha Woman University Medical Center
Collaborator
Hallym University Medical Center
Collaborator
Hanyang University Seoul Hospital
Collaborator
Inje University Ilsan Paik Hospital
Collaborator
Kangdong Sacred Heart Hospital
Collaborator
Keimyung University Dongsan Medical Center
Collaborator
Korea University Ansan Hospital
Collaborator
Korea University Guro Hospital
Collaborator
Kyung Hee University Hospital
Collaborator
Kyungpook National University Hospital
Collaborator
Nowon Eulji Medical Center
Collaborator
Pusan National University Hospital
Collaborator
Seoul Medical Center
Collaborator
Seoul National University Bundang Hospital
Collaborator
Seoul National University Hospital
Collaborator
Severance Hospital
Collaborator
Soonchunhyang University Hospital
Collaborator
Ulsan University Hospital
Collaborator
Yeungnam University Hospital
Collaborator
Daejeon Eulji University Medical Center
Collaborator
Jeonbuk National University Hospital
Collaborator
DongGuk University
Collaborator
