CADASIL

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an autosomal dominant microvasculopathy, characterised by recurrent lacunar and subcortical white matter ischaemic strokes and vascular dementia in young and middle age patients without known vascular risk factors. There is disproportionate cortical hypometabolism.

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

Presentation is usually with recurrent transient ischaemic attacks (TIAs) or strokes in multiple vascular territories. Presenile dementia and migraines develop in the third-to-fourth decades of life. Clinically CADASIL often has a similar presentation as migraines and may also have auras. Depression, psychosis, pseudobulbar palsy and focal neurological defects as well as seizures are also seen 2,3.

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. It results in small vessel and arteriole stenosis secondary to fibrotic thickening of the basement membrane of the vessels.

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.

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

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, in the initial course of the disease involvement of the anterior temporal lobe (86%) and external capsule (93%) are classical 2. There is relative sparing of the occipital and orbitofrontal subcortical white matter 2, subcortical U-fibers and cortex 3.

Cerebral microhaemorrhages have been reported to occur in ~45% (range 25-70%) of cases without a characteristic distribution 1.

Eventually cerebral atrophy ensues, which correlates well with the degree of cognitive decline.

Typically the disease has a variable but progressive course leading to death between 50-70 years of age 2,4.

General imaging differential considerations include:

  • think of it in younger patients with small vessel ischaemic white matter change
  • predilection for anterior temporal lobe white matter is a distinctive feature
  • sparing of the cortex and subcortical U-fibres is typical
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Article information

rID: 1027
Section: Pathology
Tag: cases
Synonyms or Alternate Spellings:
  • Cerebral autosomal dominant arteriopathy with subcortical Infarcts and leukoencephalopathy

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