CADASIL
From IDWiki
Background
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- It is a cerebral small vessel disease
- Inherited in an autosomal dominant pattern
- Caused by a mutation in the NOTCH3 gene
Clinical Manifestations
- Presentation can be variable
- Migraine with aura (70% of patients)
- Precedes other symptoms
- Onset around age 30 years
- TIA and stroke (85%)
- Most common genetic cause for stroke
- Onset between 20 and 70 years (average 40 to 50 years)
- Cognitive impairment and dementia (30%)
- Causes subcortical vascular dementia
- Characterized by executive dysfunction, processing speed impairment, and front lobe features
- Psychiatric features
- Can be the presenting symptom in a small number of patients
- Includes mood disorders (depression, bipolar) and suicide attempts
- Vascular parkinsonism
Further Reading
- CADASIL: A NOTCH3-associated cerebral small vessel disease. J Adv Res. 2024;66:223-235. doi: 10.1016/j.jare.2024.01.001. PMID: 38176524; PMCID: PMC11674792.
