CE17 - Recherche translationnelle en santé

Clinical relevance of a widespread NOTCH3 mutation for CADASIL pathogenesis – CILCAD

Submission summary

CADASIL is an adult-onset, dominantly inherited neurovascular disorder caused by NOTCH3 mutations. It is characterized by a variable spectrum of symptoms, even within families, including recurrent subcortical infarctions, dementia, and less frequently, migraine and psychiatric symptoms. We have recently discovered that the p.Arg1231Cys mutation is present at a very high frequency in a founder population in Italy (Nutile et al. 2019). Through comprehensive neurological evaluations (incl. MRI) and vascular risk factor collection in this population, and by comparison with well characterized patient samples from Lariboisière Hospital in Paris, this proposal aims to investigate the CADASIL pathogenesis and phenotype variability for p.Arg1231Cys mutation, to identify novel biomarkers through possible correlations between clinical phenotypes, and to detect novel genetic factors through genome-wide association studies and Identity-by-descent analyses.

Project coordination

Anne-Louise Leutenegger (Maladies neurodéveloppementales et neurovasculaires = Neurodevelopmental and Neurovascular Disorders)

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.

Partner

DMU NEUROSCIENCES ADULTES
CESP CENTRE DE RECHERCHE EN ÉPIDÉMIOLOGIE ET SANTÉ DES POPULATIONS
NeuroDiderot Maladies neurodéveloppementales et neurovasculaires = Neurodevelopmental and Neurovascular Disorders
DMU Biologie et Génomique médicales - Université de Paris
CNR / IGB-ABT

Help of the ANR 433,900 euros
Beginning and duration of the scientific project: March 2021 - 42 Months

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