CADASIL presenting with a behavioural variant frontotemporal dementia phenotype.

[cadasil]

The behavioural variant of frontotemporal dementia (bvFTD ) is characterised by personality change with a decline in cognition . We describe two patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukencephalopathy (CADASIL ) who presented with behavioural phenotypes similar to bvFTD . The first patient presented with progressive personality and behavioural change , had florid white matter hyperintensity , and had a novel missense mutation C 3 66 W in exon 7 of the Notch 3 gene . The second patient presented with progressive memory impairment and marked personality changes after a transient ischaemic attack . In this second patient , the radiological features were subtle and only the family history of stroke prompted testing for CADASIL using Notch 3 genotyping . We present these patients to demonstrate that CADASIL may mimic bvFTD , with little clinical or radiological evidence to distinguish the two . CADASIL may be an under-recognised diagnosis in apparent bvFTD . Screening Notch 3 in a substantial and unselected cohort of frontotemporal dementia patients might be appropriate to investigate this possibility .