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The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Accepted version
Peer-reviewed

Type

Article

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Authors

Bersano, Anna 
Bedini, Gloria 
Markus, Hugh Stephen 
Vitali, Paolo 
Colli-Tibaldi, Enrico 

Abstract

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. METHODS: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. RESULTS: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity. CONCLUSIONS: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.

Description

Keywords

CADASIL, Diagnosis, Monogenic disorders, NOTCH3 gene, Neuroimaging, Stroke genetics, Adult, Aged, Atrophy, Brain, CADASIL, Cerebral Hemorrhage, Female, Humans, Ischemic Attack, Transient, Magnetic Resonance Imaging, Male, Middle Aged, Neuroimaging, Prospective Studies, Receptor, Notch3, Stroke, Lacunar, White Matter

Journal Title

Journal of Neurology

Conference Name

Journal ISSN

0340-5354
1432-1459

Volume Title

265

Publisher

Dr. Dietrich Steinkopff Verlag
Sponsorship
The Lombardia GENS project has received funding from the Regione Lombardia Government as a Research Independent Project (DGR n°VIII/006128-12/12/2007). Lombardia GENS is an investigator-driven, academic, non-profit consortium and is publicly funded. Hugh Markus is supported by an NIHR Senior Investigator award and his work is supported by the Cambridge University Hospitals NIHR Biomedical Research Centre