CADASIL
Citation, DOI and case data
Presentation
Repeated neurological events in a 60 year old female with a family history stroke, depression and dementia.
Patient Data
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Widespread small vessel ischemic changes with involvement of the temporal lobes
4 case question available
Q: What autosomal dominant condition can result in repeated ischaemic events, and has a predilection for involving the temporal lobes? show answer
A: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Q: How do patients with CADASIL typically present? show answer
A: 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.
Q: Which gene is affected? show answer
A: CADASIL results from a mutation on chromosome 19q12 involving the Notch 3 gene.
Q: What is the typical distribution of white matter changes? show answer
A: Although the subcortical white matter can be diffusely involved, the frontal (93%) and temporal (86%) lobes and subinsular white matter (93%) are classical.
CADASIL Genetic Test
GENE TESTED: Notch 3 for CADASIL
RESULTS: Positive mutation for Notch 3 gene. This is a previously reported CADASIL mutation in exon 3.
Case Discussion
This case demonstrates fairly typical distribution of ischemic changes in a patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Note the prominent involvement of the temporal poles, which are usually relatively spared in run-of-the-mill chronic small vessel ischemic change.
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