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Related Experiment Video

Updated: May 7, 2026

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

CADASIL presenting with a behavioural variant frontotemporal dementia phenotype.

S K Alexander¹, J M Brown¹, A Graham¹

¹Department of Clinical Neurosciences, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia

|September 17, 2013

Summary

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukencephalopathy (CADASIL) can mimic behavioural variant frontotemporal dementia (bvFTD). Early genetic testing for CADASIL is crucial in suspected bvFTD cases, especially with subtle symptoms.

Keywords:

CADASIL Frontotemporal dementia Notch3 bvFTD

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Last Updated: May 7, 2026

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

Area of Science:

Neuroscience
Genetics
Neurology

Background:

Behavioural variant frontotemporal dementia (bvFTD) is a neurodegenerative disorder characterized by personality and behavioral changes.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukencephalopathy (CADASIL) is a genetic small vessel disease affecting the brain.

Observation:

Two patients with CADASIL presented with clinical symptoms resembling bvFTD, including personality and cognitive decline.
One patient had a novel Notch3 gene mutation (C366W) and significant white matter changes.
The second patient exhibited subtle radiological findings, with diagnosis prompted by family history and Notch3 genotyping.

Findings:

CADASIL can present with behavioral phenotypes indistinguishable from bvFTD.
Clinical and radiological features may not reliably differentiate CADASIL from bvFTD.
Notch3 gene mutations are implicated in CADASIL cases mimicking bvFTD.

Implications:

CADASIL may be an underdiagnosed cause of apparent bvFTD.
Consideration of CADASIL in bvFTD differential diagnosis is warranted.
Screening for Notch3 mutations in bvFTD patients could improve diagnostic accuracy.