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The TAG-SVD enrolled patients with clinical and neuroimaging features of cerebral small vessel disease (CSVD). All enrolled patients will receive next-generation sequence (NGS) with probes designed to target five candidate CSVD genes, and patients will be divided into genetic or non-genetic groups accordingly. Their clinical features and outcome will be followed for at least 2 years.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Genetic group | Patients who have positive DNA results by NGS screening of the following 5 genes: NOTCH3 (19q13.12), HTRA1 (10q26.13), GLA (Xq22.1), TREX1 (3p1.31) and COL4A1 (13q34). |
| |
| Nongenetic group | Patients who have negative DNA results by NGS screening . |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| MRI | Diagnostic Test | Patients will repeat study-protocol MRI at baseline (enrollment) and at least once in 1 year or 2 years follow-up (depends on availability). |
|
| Measure | Description | Time Frame |
|---|---|---|
| Number of patients with incident stroke | Clinical stroke, including transient ischemic attack, ischemic stroke, or intracerebral hemorrhage. The stroke is defined by a focal neurological deficits lasting more than 24 hours, with accompanied neuroimaging evidence of infarct or hemorrhage in corresponding brain area. | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Number of patients with incident dementia | Vascular cognitive impairment (VCI), vascular dementia (VaD), or Alzheimer's dementia or Vascular dementia according to latest diagnostic criteria. Alzheimer's disease diagnostic criteria: National Institute of Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease (PMID: 21514247) Vascular dementia diagnostic criteria: Diagnosis and Statistical Manual of Mental Disorders, Fifth Edition |
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Inclusion Criteria:
Participants must have at least one of the following symptoms/signs or history
Exclusion Criteria:
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This study enrolled patients with clini-cal and neuroimaging features of CSVD in the neurology outpatient clinic of National Taiwan University Hospital. The clinical features for being enrolled in the TAG-SVD cohort included stroke (especially small vessel occlusion type of ischaemic stroke, spontaneous ICH or young stroke), cognitive impairment, gait disturbance, parkinsonism, headache or a positive family history of hereditary CSVD. The neuroimaging features were at least one evident magnetic resonance imaging (MRI) feature of CSVD
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Sung-Chun Tang, MD, PhD | Contact | 886972651113 | sctang@ntuh.gov.tw | |
| Chih-Hao Chen, MD, PhD | Contact | 886987392027 | antonychen@ntu.edu.tw |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Neurology, National Taiwan University Hospital | Recruiting | Taipei | 100 | Taiwan |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 35781912 | Result | Chen CH, Chu YT, Chen YF, Ko TY, Cheng YW, Lee MJ, Chen PL, Tang SC, Jeng JS. Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage. Eur J Neurol. 2022 Nov;29(11):3243-3254. doi: 10.1111/ene.15485. Epub 2022 Jul 18. | |
| 37652700 | Result | Zhang R, Chen CH, Tezenas Du Montcel S, Lebenberg J, Cheng YW, Dichgans M, Tang SC, Chabriat H. The CADA-MRIT: An MRI Inventory Tool for Evaluating Cerebral Lesions in CADASIL Across Cohorts. Neurology. 2023 Oct 24;101(17):e1665-e1677. doi: 10.1212/WNL.0000000000207713. Epub 2023 Aug 31. |
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Data that support the current study are available upon reasonable request to the corresponding author.
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Each patient had a blood sample collected, and their DNA was extracted and sent for next-generation sequencing (NGS) with probes designed to target five candidate CSVD genes.
| 2 years |
| 39392097 | Result | Shen YC, Chen YF, Cheng YW, Chen CH, Jeng JS, Tang SC. Characteristics and temporal evolution of asymptomatic diffusion-weighted imaging lesions in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Eur J Neurol. 2024 Dec;31(12):e16519. doi: 10.1111/ene.16519. Epub 2024 Oct 11. |
| 39493517 | Result | Fislage M, Chen CH, Cheng YW, Chen YF, Tang SC. Subcortical volumes and cognition in CADASIL - A pilot study. Cereb Circ Cogn Behav. 2024 Oct 9;7:100371. doi: 10.1016/j.cccb.2024.100371. eCollection 2024. |
| 37982214 | Result | Cheng YW, Liao YC, Chen CH, Chung CP, Fann CSJ, Chang CC, Lee YC, Tang SC. Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants. J Am Heart Assoc. 2023 Nov 21;12(22):e032689. doi: 10.1161/JAHA.123.032689. Epub 2023 Nov 20. |
| 35617208 | Result | Lin CW, Yang ZW, Chen CH, Cheng YW, Tang SC, Jeng JS. Reduced macular vessel density and inner retinal thickness correlate with the severity of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). PLoS One. 2022 May 26;17(5):e0268572. doi: 10.1371/journal.pone.0268572. eCollection 2022. |
| ID | Term |
|---|---|
| D059345 | Cerebral Small Vessel Diseases |
| D046589 | CADASIL |
| D000795 | Fabry Disease |
| D020521 | Stroke |
| ID | Term |
|---|---|
| D002561 | Cerebrovascular Disorders |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D002544 | Cerebral Infarction |
| D020520 | Brain Infarction |
| D002545 | Brain Ischemia |
| D015140 | Dementia, Vascular |
| D002539 | Cerebral Arterial Diseases |
| D020765 | Intracranial Arterial Diseases |
| D003704 | Dementia |
| 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 |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D040181 | Genetic Diseases, X-Linked |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
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