CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
- General
- Most common form of hereditary cerebral angiopathy
- Genetic
- Mainly inherited
- A mutation in the NOTCH3 gene on chromosome 19q12 (NOTCH 4 gene mutated in AVM)
- Codes for a transmembrane receptor protein
- NOTCH3 receptor is located on the surface of smooth muscle cells surrounding arteries
- Which influences how cells in blood vessels grow and develop
- Genetic testing is commercially available to detect mutations in NOTCH3.
- Clinical features
- Clinical tetrad of
- Migraine
- Recurrent strokes/TIAs
- Due to thickening and fibrosis of the walls of small and medium-sized arteries.
- Often hemiplegic in early adult life
- Dementia
- Psychiatric disturbances
- Radiological
- involvement of the external capsules, which has a sensitivity of 93% and a specificity of 45%
Binswanger encephalopathy
Aka
- Subcortical arteriosclerotic encephalopathy (SAE)
- CADASIL
- Small vessel dementia
Diagnostic criteria
- Marked subcortical microangiopathic lesions at MR imaging
- Negative family history of strokes, early cognitive impairment, or psychiatric disorders in first- and second-degree relatives
- Documented arterial hypertension:
- Systolic values higher than 160 mmHg, diastolic values higher than 95 mmHg, or both, measured on several occasions
Pathology
- Diffuse hemisphere demyelination.
Clinical features
- Progressive dementia
- Pseudobulbar palsy
CT
- Shows areas of periventricular low attenuation
MRI
- Subcortical and periventricular hyperintense lesions visible on FLAIR, T2-weighted, and proton-density sequences
- Subcortical U-fibres are usually spared
Made with Bullet