Fact-sheet: CADASIL - Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy


Updated on 04/12/2026 at 6:17 PM

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Definition

CADASIL - Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy.

Non-amyloid, non-atherosclerotic cerebral microangiopathy affecting small-caliber cerebral arteries.

Autosomal dominant hereditary disorder with complete penetrance, mainly related to a mutation in the Notch 3 gene on chromosome 19.
De novo mutations are possible.

Clinical features

Population: young women (30-40 years), without risk factors.

Family history.

Semiology:

  • Migraine with aura
  • Ischemic stroke
  • Epilepsy
  • Mood disorders
  • Cognitive impairment, early-onset dementia without vascular risk factors.

CT

  • Hypodense subcortical and basal ganglia lesions
  • No enhancement after contrast injection.
  • Cerebral atrophy of the anterior regions (temporal ++)

MRI

Recurrent subcortical and lacunar infarcts located in the basal ganglia (centrum semiovale), temporal and frontal regions, and brainstem.
Severe leukoencephalopathy with confluent, symmetric white matter lesions:
- Involvement of the anterior temporal lobe poles +++
- Involvement of the external capsules +++
- Involvement of U-fibers
- Involvement of the corpus callosum

Microbleeds of nonspecific topography.
No cortical infarcts

Cerebral atrophy of the anterior regions (temporal ++), correlated with cognitive impairment

Management

Symptomatic treatment.

Differential diagnosis

  • MELAS mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
  • Conditions producing FLAIR/T2 hyperintense white matter areas, including cerebral microangiopathy - cerebral small vessel disease and Binswanger's subcortical vascular encephalopathy