Malnar Martina, Hecimovic Silva, Mattsson Niklas, Zetterberg Henrik
Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia.
Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia.
Neurobiol Dis. 2014 Dec;72 Pt A:37-47. doi: 10.1016/j.nbd.2014.05.033. Epub 2014 Jun 4.
Alzheimer's disease (AD) and Niemann-Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology. AD is a common cause of dementia with a complex polyfactorial etiology, including both genetic and environmental risk factors, while NPC is a very rare autosomal recessive disease. However, the diseases share some disease-related molecular pathways, including abnormal cholesterol metabolism, and involvement of amyloid-β (Aβ) and tau pathology. Here we review recent studies on these pathological traits, focusing on studies of Aβ and tau pathology in NPC, and the importance of the NPC1 gene in AD. Further studies of similarities and differences between AD and NPC may be useful to increase the understanding of both these devastating neurological diseases.
阿尔茨海默病（AD）和尼曼-匹克C型（NPC）病是具有截然不同的流行病学和病因的进行性神经退行性疾病。AD是痴呆的常见病因，病因复杂且多因素，包括遗传和环境风险因素，而NPC是一种非常罕见的常染色体隐性疾病。然而，这两种疾病共享一些与疾病相关的分子途径，包括异常的胆固醇代谢，以及淀粉样β蛋白（Aβ）和tau病理改变。在此，我们综述了关于这些病理特征的最新研究，重点关注NPC中Aβ和tau病理改变的研究，以及NPC1基因在AD中的重要性。对AD和NPC之间异同的进一步研究可能有助于增进对这两种毁灭性神经疾病的理解。
