Taiwan Associated Genetic and Nongenetic Small Vessel Disease

National Taiwan University Hospital500 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

500

Conditions

Cerebral Small Vessel Diseases Cadasil HTRA1-Related Autosomal Dominant Cerebral Angiopathy COL4A1-Related Brain Small Vessel Disease With Haemorrhage Fabry Disease Magnetic Resonance Imaging Next-generation Sequencing

Eligibility

Sex: ALLMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

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.

Time frame: 2 years

Secondary Outcomes

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

Time frame: 2 years

Central Contacts

Sung-Chun Tang, MD, PhD

CONTACT

886972651113 sctang@ntuh.gov.tw

Chih-Hao Chen, MD, PhD