CADASIL
Conditions
Interventions
CADASIL patient group:None
control group:None
Sponsors
Third Affiliated Hospital of Sun Yat sen University
Eligibility
Sex/Gender
All
Age
18 Years to 80 Years
Inclusion criteria
Inclusion criteria: Patients group: ? Incidence: middle-aged onset, mostly with family history and proband, in line with autosomal dominant inheritance, mostly without hypertension, diabetes, hypercholesterolemia and other vascular risk factors; ? Clinical manifestations: consistent with one or more of the manifestations of ischemic stroke, cognitive impairment, or emotional disorders; ? Brain MRI: Widespread symmetrical high signal lesions in the white matter of the brain, significant involvement in the temporal lobe, accompanied by multiple lacunar infarctions; ? Pathological examination: There is GOM deposition or NOTCH3 ECD protein immunohistochemistry staining positive on the surface of vascular smooth muscle cells; ? Genetic examination: NOTCH3 gene mutation. Simultaneously meet the requirements of ?~? plus ? or ?. Control group: 1. Age range: 18-80 years old 2. The patient was diagnosed by a clinical physician as a neurological patient with migraine, tension type headache, benign positional vertigo, peripheral neuropathy, myasthenia gravis, and polymyositis 3. Able to cooperate in completing sleep monitoring and imaging examinations
Exclusion criteria
Exclusion criteria: Patients: 1. Patients who cannot accept head MRI examination and sleep monitoring 2. Patients with known renal dysfunction (eGFR = 60ml/min/1.73m2); 3. History of severe liver disease, or ALT/AST levels exceeding the upper limit of normal by 3 times or total bilirubin levels exceeding the upper limit of normal by 2 times; 4. Participated in other clinical trials in the three months prior to the start of this study. Control group: 1. Patients with known renal dysfunction (eGFR = 60ml/min/1.73m2); 2. History of severe liver disease, or ALT/AST levels exceeding the upper limit of normal by 3 times or total bilirubin levels exceeding the upper limit of normal by 2 times; 3. Merge malignant tumors or have a history of malignant tumors.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| A-ß42; | — |
Secondary
| Measure | Time frame |
|---|---|
| PSQI score; | — |
Countries
China
Contacts
Public Contactlu zhengqi
Third Affiliated Hospital of Sun Yat sen University
Outcome results
None listed