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August 10, 2015: A mnemonic for the clinical manifestations of CADASIL

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August 10, 2015

A mnemonic for the clinical manifestations of CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an autosomal dominant, small vessel arteriopathy resulting from mutations in the NOTCH3 gene located on chromosome 19p13.1. The most common manifestations are migraine with aura, mood disorders, subcortical strokes and cognitive decline although seizures and intracerebral hemorrhages may infrequently occur. A helpful mnemonic to remember the clinical features using the same acronym of CADASIL is proposed; C for cognitive impairment, A for aura, D for depression, A for apathy, S for seizures, I for infarcts and intracerebral hemorrhages, L for leucoencephalopathy. MRI characteristically shows white matter hyperintensities and lacunes at the periventricular regions, centrum semiovale, external capsule and anterior temporal pole. Diagnostic confirmation is by genetic testing. The diagnostic confirmation can be made by genetic testing or electron microscopy demonstrating granular osmiophilic material in or around vascular smooth muscle cells.

References

  1. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol 2009; 8: 643-653.
  2. Rinnoci V, Nannucci S, Valenti R, et al. Cerebral hemorrhages in CADASIL: report of four cases and a brief review. J Neurol Sci 2013; 330: 45-51.

Submitted by Tianrong Yeo, Registrar, Department of Neurology, National Neuroscience Institute, Singapore

Disclosures: Dr. Yeo reports no disclosures.

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