Alzheimer's disease (AD) is a pervasive, relentlessly progressive neurodegenerative disorder that includes both hereditary and sporadic forms linked by common underlying neuropathologic changes and neuropsychological manifestations. While a clinical diagnosis is often made on the basis of initial memory dysfunction that progresses to involve multiple cognitive domains, definitive diagnosis requires autopsy examination of the brain to identify amyloid plaques and neurofibrillary degeneration. Over the past 100 years, there has been remarkable progress in our understanding of the underlying pathophysiologic processes, pathologic changes, and clinical phenotypes of AD, largely because genetic pathways that include but expand beyond amyloid processing have been uncovered. This review discusses the current state of understanding of the genetics of AD with a focus on how these advances are both shaping our understanding of the disease and informing novel avenues and approaches for development of potential therapeutic targets.

中文翻译：

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阿尔茨海默氏病的遗传学见解。

阿尔茨海默氏病（AD）是一种普遍存在的，无情的进行性神经退行性疾病，包括遗传性和散发性形式，它们通过常见的潜在神经病理学变化和神经心理学表现联系在一起。尽管临床诊断通常是基于涉及多个认知域的初始记忆功能障碍进行的，但明确的诊断需要对大脑进行尸检，以识别淀粉样斑块和神经原纤维变性。在过去的100年中，我们对AD的潜在病理生理过程，病理变化和临床表型的理解取得了显着进步，这在很大程度上是因为已经发现了包括但不限于淀粉样蛋白加工的遗传途径。