Chapter 8 - The Epidemiology and Genetics of Vascular Dementia: Current Knowledge and Next Steps

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Abstract

Vascular dementia (VaD) is dementia resulting from vascular defects such as occlusions or malformations in the brain, typically arising from stroke. Although it is the second most common cause of dementia after Alzheimer's disease, it has a considerably more ambiguous and heterogeneous pathology, complicating the identification of causal genetic risk factors. Successful genetic studies of VaD have included candidate genes studies that have focused on genes contributing to cerebrovascular disease and genes contributing to vascular risk factors upstream of stroke, such as genes related to renin–angiotensin system like angiotension converting enzyme influencing hypertension. Studies of subtypes of VaD with distinct pathologies, such as cerebral amyloid angiopathy, have also succeeded in identifying genes that may contribute to the presentation of VaD even among those without monogenic forms of disease. Finally, genome-wide association studies using high-density genotyping arrays and next-generation sequencing are beginning to identify high penetrance common genetic variants increasing the risk of the disease, and with future studies may identify rare variants driving VaD. Although genetic studies of VaD remain challenging due to varying diagnostic criteria and heterogeneity in disease pathology, studies with larger sample sizes and highly refined phenotypic characterizations of dementia may provide opportunities for the identification of novel genetic contributors to VaD.

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