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The aim of this study is to determine the clinical spectrum and natural progression of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and related disorders in a prospective multicenter study, to assess the clinical, genetic and epigenetic features of patients with CADASIL , to optimize clinical management.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| CADASIL patients | |||
| Asymptomatic carriers of CADASIL | |||
| Relatives of CADASIL patients and carriers | |||
| Unrelated healthy controls |
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| Measure | Description | Time Frame |
|---|---|---|
| Overall outcomes in CADASIL patients | record the occurrence of stroke and use modified Rankin Scale (mRS) to measure the degree of disability or dependence in the daily activities of people who have suffered a stroke or other causes of neurological disability. | From date of enrollment until the date of death from any cause, assessed up to 20years |
| Measure | Description | Time Frame |
|---|---|---|
| The correlation of genotype and phenotype | Genotype is defined by NOTCH3 pathogenic variant position and phenotype is defined by clinical types and characteristics. | From date of enrollment until the date of death from any cause, assessed up to 20years |
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Inclusion Criteria:
Exclusion Criteria:
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Patients diagnosed in hosipital and their's family
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lin Yi, PhD | Contact | 13615039153 | 86 | caibin929@163.com |
| Cai Bin, PhD | Contact | 13338413842 | caibin929@163.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Neurology , First Affiliated Hospital Fujian Medical University | Recruiting | Fuzhou | Fujian | 350004 | China |
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| ID | Term |
|---|---|
| D046589 | CADASIL |
| ID | Term |
|---|---|
| D002544 | Cerebral Infarction |
| D020520 | Brain Infarction |
| D002545 | Brain Ischemia |
| D002561 | Cerebrovascular Disorders |
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| D001927 |
| Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D015140 | Dementia, Vascular |
| D002539 | Cerebral Arterial Diseases |
| D020765 | Intracranial Arterial Diseases |
| D020521 | Stroke |
| D003704 | Dementia |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007238 | Infarction |
| D007511 | Ischemia |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D009336 | Necrosis |