The effects of different familial Alzheimer’s disease mutations on APP processing in vivo

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• 作者：Steinunn Thordardottir ; Anne Kinhult Ståhlbom…
• 关键词：Alzheimer’s disease ; Amyloid precursor protein ; Biomarkers ; Cerebrospinal fluid ; Genetics
• 刊名：Alzheimer's Research & Therapy
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：9
• 期：1
• 全文大小：761KB
• 刊物主题：Neurosciences; Neurology; Geriatrics/Gerontology; Geriatric Psychiatry;
• 出版者：BioMed Central
• ISSN：1758-9193
• 卷排序：9

文摘

BackgroundDisturbed amyloid precursor protein (APP) processing is considered to be central to the pathogenesis of Alzheimer’s disease (AD). The autosomal dominant form of the disease, familial AD (FAD), may serve as a model for the sporadic form of AD. In FAD the diagnosis of AD is reliable and presymptomatic individuals carrying FAD mutations can give valuable insights into the earliest stages of the disease where therapeutic interventions are thought to be the most effective.