A novel CADASIL-causing mutation in a stroke patient

Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an uncommon autosomal dominant genetic disease due to mutations in the Notch3 gene on chromosome 19. The major clinical characteristics of CADASIL are migraine, recurrent ischaemic strokes and dementia.

Case report: We describe the case of a 58-year old man who presented with a minor stroke that occurred in the absence of significant vascular risk factors. His family history included stroke, dementia and early death. An MRI brain scan demonstrated hyperintensities in the white matter on FLAIR images with prominent involvement of the area of the external capsule bilaterally. Based on the family history and the MRI findings, CADASIL was suspected. Mutational analysis of the Notch3 gene disclosed a novel mutation substituting cysteine for glycine at codon 251 in exon 5, confirming the diagnosis of CADASIL.

Conclusion: This case suggests that CADASIL should be suspected in patients with stroke that arises in the absence of known vascular risk factors, especially if there are typical MRI findings. A strong family history of stroke and dementia are also supportive.