Cadasil, Cerebral Small Vessel Diseases, COL4A1-Related Brain Small Vessel Disease With Haemorrhage, Fabry Disease, HTRA1-Related Autosomal Dominant Cerebral Angiopathy, Magnetic Resonance Imaging, Next-generation Sequencing, Stroke
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTMRI
Patients will repeat study-protocol MRI at baseline (enrollment) and at least once in 1 year or 2 years follow-up (depends on availability).
Sponsors
National Taiwan University Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
Participants must have at least one of the following symptoms/signs or history * stroke (especially small vessel occlusion type of ischaemic stroke, spontaneous ICH or young stroke) * cognitive impairment or dementia * gait disturbance * parkinsonism (especially vascular parkinsonism features) * headache (especially migraine) * positive family history of hereditary CSVD * MRI evidence of CSVD (MRI may be done for other reasons), including mild to moderate white matter hyper intensity, any lacune, or any cerebral microbleed
Exclusion criteria
* MRI evidence of CSVD due to other inflammatory, malignancy, or structural lesions * patients or family members not willing to sign informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of patients with incident stroke | 2 years | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of patients with incident dementia | 2 years | 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 |
Countries
Taiwan
Contacts
CONTACTSung-Chun Tang, MD, PhD
CONTACTChih-Hao Chen, MD, PhD
Outcome results
None listed