Development and Validation of a Functional MRI Biomarker of Cerebral Small Vessel Dysfunction in CADASIL

Inclusion criteria

For CADASIL patients

• Age between 18 and 80 at the time of inclusion
• Diagnosis confirmed by detection of a pathogenic mutation in the NOTCH3 gene characteristic of CADASIL.
• Beneficiaries of a health insurance.
• Written consent.

For controls:

• Age between 18 and 80 at the time of inclusion
• Beneficiary of a health insurance.
• Written consent

Exclusion criteria

For patients

• Contraindication to MRI examination
• Disability: Rankin score ≥ 4
• Moderate to severe dementia according to DSM 5 criteria or MMSE score ≤ 19
• Person covered by articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the French Public Health Code, defined by :

• Pregnant, parturient or breast-feeding woman
• Person deprived of liberty by judicial or administrative decision.
• Persons hospitalized without consent and not under legal protection, and persons admitted to a health or social establishment for purposes other than research.
• Minor
• Person of full age subject to a legal protection measure (guardianship, curatorship or safeguard of justice), person of full age unable to give consent and not subject to a protection measure.
• Person subject to a period of exclusion for another research project

For controls :

• Contraindication to MRI examination
• Known cognitive complaint or deficit
• Presence of significant disability (mRS >1)
• Focal neurological motor, sensory or visual deficit on clinical examination that may impair visual or motor stimulation tests
• History of neurological or psychiatric disease
• History of migraine attacks with aura
• Vascular history (known disease of peripheral arteries, heart or brain)
• Known or treated diabetes
• Known or treated hypercholesterolemia
• Known or treated hypertension
• Active smoking or smoking cessation within the last year
• Regular alcohol consumption corresponding to > 2 glasses/day for men and 1 glass/day for women in wine equivalent
• Treatment likely to interfere with neurovascular coupling (in particular any treatment with non-steroidal anti-inflammatory drugs, psychotropic drug(s), antihypertensive drug(s) or statins)
• Person covered by articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the French Public Health Code, defined by :

• Pregnant, parturient or breast-feeding woman
• Person deprived of liberty by judicial or administrative decision
• Persons hospitalized without consent and not under legal protection, and persons admitted to a health or social institution for purposes other than research.
• Minor
• Person of full age subject to a legal protection measure (guardianship, curatorship or safeguard of justice), person of full age unable to give consent and not subject to a protection measure.
• Person subject to a period of exclusion for another research project