Genetic Testing for CADASIL Patients

Patients were selected based on the following inclusion criteria: (1) age higher than 18 years, (2) diagnosis confirmed by a genetic test and showing a typical cysteine mutation of the NOTCH3 gene, (3) participation to the French Cohort of CADASIL patients evaluated in the National Referral Centre for rare cerebrovascular diseases (www.cervco.fr); (4) having at least two previous follow-up visits in the centre, (5) lack of sensory or severe cognitive difficulties (particularly in reasoning, language or attention) that could compromise the understanding of questions, (6) French language skills allowing easy understanding of questions asked by phone, (7) informed consent already obtained for collecting clinical and imaging data during follow-up. Patients already known having dementia (defined by DSM-IV-TR criteria [3 ]), severe motor disability and who were highly dependent in daily life were excluded from the outset.

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Reyes S., Jabouley A., Alili N., De Sanctis M.H., Machado C., Taleb A., Herve D., Dias-Gastellier N, & Chabriat H. (2023). Psychological impact of COVID-19 containment on CADASIL patients. Journal of Neurology, 270(5), 2370-2379.

Publication 2023

A gene Attention Cadasil Cognitive Cysteine Dementia Diagnosis Disability Genetic test Mutation Notch3 Participation patients Patients Rare diseases

Corresponding Organization : Inserm

Top 5 similar protocols

Variable analysis

independent variables

None explicitly mentioned

dependent variables

None explicitly mentioned

control variables

Age higher than 18 years
Diagnosis confirmed by a genetic test and showing a typical cysteine mutation of the NOTCH3 gene
Participation to the French Cohort of CADASIL patients evaluated in the National Referral Centre for rare cerebrovascular diseases
Having at least two previous follow-up visits in the centre
Lack of sensory or severe cognitive difficulties (particularly in reasoning, language or attention) that could compromise the understanding of questions
French language skills allowing easy understanding of questions asked by phone
Informed consent already obtained for collecting clinical and imaging data during follow-up

positive controls

None specified

negative controls

Patients already known having dementia (defined by DSM-IV-TR criteria), severe motor disability and who were highly dependent in daily life were excluded from the outset

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