Nafe Reinhold, Arendt Christophe T, Hattingen Elke
Department of Neuroradiology, Clinics of Johann Wolfgang-Goethe University, Schleusenweg 2-16, 60528 Frankfurt am Main, Germany.
Transl Neurosci. 2023 Oct 16;14(1):20220315. doi: 10.1515/tnsci-2022-0315. eCollection 2023 Jan 1.
Prion diseases and the prion protein are only partially understood so far in many aspects. This explains the continued research on this topic, calling for an overview on the current state of knowledge. The main objective of the present review article is to provide a comprehensive up-to-date presentation of all major features of human prion diseases bridging the gap between basic research and clinical aspects. Starting with the prion protein, current insights concerning its physiological functions and the process of pathological conversion will be highlighted. Diagnostic, molecular, and clinical aspects of all human prion diseases will be discussed, including information concerning rare diseases like prion-associated amyloidoses and Huntington disease-like 1, as well as the question about a potential human threat due to the transmission of prions from prion diseases of other species such as chronic wasting disease. Finally, recent attempts to develop future therapeutic strategies will be addressed.
到目前为止,朊病毒疾病和朊病毒蛋白在许多方面仅得到部分理解。这解释了对该主题持续进行研究的原因,需要对当前的知识状况进行概述。本综述文章的主要目的是全面、最新地呈现人类朊病毒疾病的所有主要特征,弥合基础研究与临床方面之间的差距。从朊病毒蛋白开始,将重点介绍其生理功能和病理转化过程的当前见解。将讨论所有人类朊病毒疾病的诊断、分子和临床方面,包括有关罕见疾病如朊病毒相关淀粉样变性和亨廷顿病样1的信息,以及关于其他物种的朊病毒疾病(如慢性消耗病)传播导致潜在人类威胁的问题。最后,将探讨近期开发未来治疗策略的尝试。