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CADASIL

Dr Frank Gaillard and Dr Donna D'Souza et al.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an autosomal dominant vascular dementia, linked to a gene on chromosome 19, that presents with multiple lacunar and subcortical white matter infarctions. There is disproportionate cortical hypometabolism. Presenile dementia and migraines develop in the third to fourth decades of life.

Epidemiology

CADASIL is an autosomal dominant trait, with patients typically becoming symptomatic in adulthood (30 - 50 years of age).

Clinical presentation

Presentation is usually with recurrent transient ischaemic attacks (TIAs) or strokes in multiple vascular territories, and eventual dementia. Clinically often has similar presentation as migraines and may also have auras. Depression, psychosis, pseudobulbar palsy and focal neurological defects are also seen ^2,3.

Pathology

CADASIL results from a mutation on chromosome 19q12 involving the Notch 3 gene, and as the name implies is inherited as an autosomal dominant trait. Histologically an angiopathy of small and middle sized arteries is characteristic, without atherosclerosis or amyloid deposition ³. Diagnosis requires genetic identification of the mutated gene ⁴.

Radiographic features

CT

CT is non-specific, demonstrating white matter regions of low attenuation.

MRI

MRI is the investigation of choice, often demonstrating widespread confluent white matter hyperintensities ². More circumscribed hyperintense lesions are also seen in the basal ganglia, thalamus and pons ³.

Although the subcortical white matter can be diffusely involved, the frontal (93%) and temporal (86%) lobes and subinsular white matter (93%) are classical ².

There is relative sparing of the occipital and orbitofrontal subcortical white matter ², U-fibers and cortex ³.

Cerebral microhaemorrhages have been reported to occur in 25 - 70% of cases without a characteristic distribution ¹.