CADASIL

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.