The main objective of this research is to obtain biological markers of smooth muscle cells dysfunction or degeneration in cerebral small vessel diseases. The aim of this research is therefore to build up a biocollection of CSF and blood samples from 1) patients with CADASIL disease (the most common form of cSVD) responsible for an accumulation of the NOTCH3 protein in the microvessel wall, 2) patients with other forms of monogenic cSVD (rarer) which are not responsible for an accumulation of this protein despite the damage to the smooth muscle cells of the vessel wall and 3) control patients without cSVD, collected in the context of care. This bio-collection will allow the identification and assay of markers testifying to the damage of the smooth muscle cells (SMC) in different types of cSVD of hereditary origin, the first of which will be the soluble NOTCH3 protein.
Study Type
OBSERVATIONAL
Enrollment
90
Lumbar puncture (Spinal Tap) and additional blood samples
Differential CSF proteins
Differential ELISA determination of CSF proteins between monogenic cSVD patients and controls
Time frame: At inclusion
Differential blood proteins
Differential ELISA determination of blood (plasma) proteins between monogenic cSVD patients and controls
Time frame: At inclusion
Correlation blood and CSF
Spearman correlation between plasma and CSF proteins assays in patients
Time frame: At inclusion
Number
Number of CSF and blood samples obtained in monogenic cSVD patients and the control population
Time frame: At inclusion
Effect of age on blood
Effect of age on ELISA determination of blood (plasma) proteins in patients and controls
Time frame: At inclusion
Effect of age on CSF
Effect of age on ELISA determination of CSF proteins in patients and controls
Time frame: At inclusion
Link between blood protein assays and strokes
Correlation between plasma proteins assays in patients on the number of strokes in patients
Time frame: At inclusion
Link between CSF protein assays and strokes
Correlation between CSF proteins assays in patients on the number of strokes in patients
Time frame: At inclusion
Link between blood protein assays and Rankin
Correlation between plasma proteins assays in patients on the modified Rankin score Wilson JL, Hareendran A, Hendry A, et al. (2005). "Reliability of the Modified Rankin Scale Across Multiple Raters: Benefits of a Structured Interview". Stroke. 36 (4): 777-781. Modified Rankin Scale permits to evaluate the degree of disability or dependance in daily activities of people who have suffered a stroke or other causes of neurological disability. It is a 6-level scale ranging from 1 to 6. The higher the score the higher the disability.
Time frame: At inclusion
Link between CSF protein assays and Rankin
Correlation between CSF proteins assays in patients on the modified Rankin score Wilson JL, Hareendran A, Hendry A, et al. (2005). "Reliability of the Modified Rankin Scale Across Multiple Raters: Benefits of a Structured Interview". Stroke. 36 (4): 777-781. Modified Rankin Scale permits to evaluate the degree of disability or dependance in daily activities of people who have suffered a stroke or other causes of neurological disability. It is a 6-level scale ranging from 1 to 6. The higher the score the higher the disability.
Time frame: At inclusion
Link between blood protein assays and MMSE
Correlation between plasma proteins assays in patients on the Mini-Mental State Examination (MMSE) Folstein MF, Folstein SE, McHugh PR, " Mini-mental state : a practical method for grading the cognitive state of patients for the clinician " J Psychiatr Res, 1975;12:189-198 The Mini-Mental State Examination (MMSE) permits to evaluate cognitive state of patients. It is a 30 items scale and the score varies between 0 and 30. The higher the score the better cognitive function.
Time frame: At inclusion
Link between CSF protein assays and MMSE
Correlation between CSF proteins assays in patients on the Mini-Mental State Examination (MMSE) Folstein MF, Folstein SE, McHugh PR, " Mini-mental state : a practical method for grading the cognitive state of patients for the clinician " J Psychiatr Res, 1975;12:189-198 The Mini-Mental State Examination (MMSE) permits to evaluate cognitive state of patients. It is a 30 items scale and the score varies between 0 and 30. The higher the score the better cognitive function.
Time frame: At inclusion
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