神经退行性疾病中的罕见神经血管遗传和影像学标志物。
Rare neurovascular genetic and imaging markers across neurodegenerative diseases.
机构信息
Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.
Dr. Sandra Black Centre for Brain Resilience and Recovery, LC Campbell Cognitive Neurology, Hurvitz Brain Sciences Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
出版信息
Alzheimers Dement. 2023 Dec;19(12):5583-5595. doi: 10.1002/alz.13316. Epub 2023 Jun 5.
INTRODUCTION
Cerebral small vessel disease (SVD) is common in patients with cognitive impairment and neurodegenerative diseases such as Alzheimer's and Parkinson's. This study investigated the burden of magnetic resonance imaging (MRI)-based markers of SVD in patients with neurodegenerative diseases as a function of rare genetic variant carrier status.
METHODS
The Ontario Neurodegenerative Disease Research Initiative study included 520 participants, recruited from 14 tertiary care centers, diagnosed with various neurodegenerative diseases and determined the carrier status of rare non-synonymous variants in five genes (ABCC6, COL4A1/COL4A2, NOTCH3/HTRA1).
RESULTS
NOTCH3/HTRA1 were found to significantly influence SVD neuroimaging outcomes; however, the mechanisms by which these variants contribute to disease progression or worsen clinical correlates are not yet understood.
DISCUSSION
Further studies are needed to develop genetic and imaging neurovascular markers to enhance our understanding of their potential contribution to neurodegenerative diseases.
简介
脑小血管病（SVD）在认知障碍和阿尔茨海默病、帕金森病等神经退行性疾病患者中较为常见。本研究调查了作为罕见遗传变异携带者状态的函数，神经退行性疾病患者基于磁共振成像（MRI）的 SVD 标志物的负担。
方法
安大略神经退行性疾病研究倡议研究纳入了 520 名参与者，他们是从 14 个三级护理中心招募的，诊断为各种神经退行性疾病，并确定了五个基因（ABCC6、COL4A1/COL4A2、NOTCH3/HTRA1）中的罕见非同义变异的携带者状态。
结果
发现 NOTCH3/HTRA1 显著影响 SVD 神经影像学结果；然而，这些变异如何导致疾病进展或恶化临床相关因素的机制尚不清楚。
讨论
需要进一步研究以开发遗传和影像学神经血管标志物，以增强我们对它们对神经退行性疾病潜在贡献的理解。
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