CADASIL

Exam Cram

• CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

• Inheritance: autosomal dominant

• Presentation: severe migraines with aura, focal neurology from ischaemic strokes, cognitive decline, under 50yrs

• MRI- Brain: periventricular and deep white matter hyperintensities, particularly temporally (lacunar infarcts)

• Diagnosis: NOTCH-3 genetic test (90% sensitivity, 100% specificity)

• Management: supportive

Exam Cram

• CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

• Inheritance: autosomal dominant

• Presentation: severe migraines with aura, focal neurology from ischaemic strokes, cognitive decline, under 50yrs

• MRI- Brain: periventricular and deep white matter hyperintensities, particularly temporally (lacunar infarcts)

• Diagnosis: NOTCH-3 genetic test (90% sensitivity, 100% specificity)

Med Reg Notes

• Prevalence 2/100,000

• Commoner type of Genetic CSVDs (Cerebral Small Vessel Disease)

• Role of antiplatelets unknown, no evidence to support or refute antiplatelets.  [1]

References and Resources

1. https://www.ahajournals.org/doi/10.1161/STR.0000000000000444

Written in 2025.