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Cerebral Small Vessel Disease and Alzheimer's Disease: A Review.

ABSTRACT: Alzheimer's disease (AD) is the most common cause of dementia. Despite this, clear pathophysiology for AD has not been confirmed, and effective treatments are still not available. As AD results in a complex disease process for cognitive decline, various theories have been suggested as the cause of AD. Recently, cerebral small vessel disease (SVD) has been suggested to contribute to the pathogenesis of AD, as well as contributing to vascular dementia. Cerebral SVD refers to a varied group of diseases that affect cerebral small arteries and microvessels. These can be seen as white matter hyperintensities, cerebral microbleeds, and lacunes on magnetic resonance imaging. Data from epidemiological and clinical-pathological studies have found evidence of the relationship between cerebral SVD and AD. This review aims to discuss the complex relationship between cerebral SVD and AD. Recent reports that evaluate the association between these diseases will be reviewed.

SUBMITTER: Kim HW

PROVIDER: S-EPMC7477392 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Cerebral Small Vessel Disease and Alzheimer's Disease: A Review.

Kim Hae Won HW Hong Jeongho J Jeon Jae Cheon JC

Frontiers in neurology 20200825

Alzheimer's disease (AD) is the most common cause of dementia. Despite this, clear pathophysiology for AD has not been confirmed, and effective treatments are still not available. As AD results in a complex disease process for cognitive decline, various theories have been suggested as the cause of AD. Recently, cerebral small vessel disease (SVD) has been suggested to contribute to the pathogenesis of AD, as well as contributing to vascular dementia. Cerebral SVD refers to a varied group of dise ...[more]

PMID: 32982937

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Project description:Background Cerebral small-vessel disease (cSVD) is an important cause of stroke and vascular dementia. Most cases are multifactorial, but an emerging minority have a monogenic cause. While NOTCH3 is the best-known gene, several others have been reported. We aimed to summarize the cerebral phenotypes associated with these more recent cSVD genes. Methods and Results We performed a systematic review (PROSPERO [International Prospective Register of Systematic Reviews]: CRD42020196720), searching Medline/Embase (conception to July 2020) for any language publications describing COL4A1/2, TREX1, HTRA1, ADA2, or CTSA pathogenic variant carriers. We extracted data about individuals' characteristics and clinical and vascular radiological cerebral phenotypes. We summarized phenotype frequencies per gene, comparing patterns across genes. We screened 6485 publications including 402, and extracted data on 390 individuals with COL4A1, 123 with TREX1, 44 with HTRA1 homozygous, 41 with COL4A2, 346 with ADA2, 82 with HTRA1 heterozygous, and 14 with CTSA. Mean age ranged from 15 (ADA2) to 59 years (HTRA1 heterozygotes). Clinical phenotype frequencies varied widely: stroke, 9% (TREX1) to 52% (HTRA1 heterozygotes); cognitive features, 0% (ADA2) to 64% (HTRA1 homozygotes); and psychiatric features, 0% (COL4A2; ADA2) to 57% (CTSA). Among individuals with neuroimaging, vascular radiological phenotypes appeared common, ranging from 62% (ADA2) to 100% (HTRA1 homozygotes; CTSA). White matter lesions were the most common pathology, except in ADA2 and COL4A2 cases, where ischemic and hemorrhagic lesions dominated, respectively. Conclusions There appear to be differences in cerebral manifestations across cSVD genes. Vascular radiological changes were more common than clinical neurological phenotypes, and present in the majority of individuals with reported neuroimaging. However, these results may be affected by age and biases inherent to case reports. In the future, better characterization of associated phenotypes, as well as insights from population-based studies, should improve our understanding of monogenic cSVD to inform genetic testing, guide clinical management, and help unravel underlying disease mechanisms.

Dataset Information

Cerebral Small Vessel Disease and Alzheimer's Disease: A Review.

Publications

Cerebral Small Vessel Disease and Alzheimer's Disease: A Review.

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