Tolea Magdalena I, Galvin James E
Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL, United States.
Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL, United States.
Handb Clin Neurol. 2018;148:431-440. doi: 10.1016/B978-0-444-64076-5.00028-4.
Dementia with Lewy bodies (DLB), the most common non-AD neurodegenerative disease has in the past several decades attracted the attention of the neurological scientific community due to its highly negative impact on the quality of life of both the affected individuals and those caring for them. The strong hereditary component in related conditions such as PD and AD and the description of a number of DLB families suggest that genetic factors may play a role in the pathogenesis of DLB. This chapter focuses on currently proposed causal and risk genes and their role in the pathophysiology of DLB, discusses the feasibility of genetic therapy and genetic testing in the diagnostic and treatment of DLB and provides directions for future research. While no single mutation is specific enough to support its regular use in the diagnosis/treatment of DLB, identification of combinations of causative gene or single-gene point mutations and risk genes interfering with the pathogenesis of DLB may help elucidate the genetic mechanisms involved in DLB and inform development of gene-specific therapies.
路易体痴呆（DLB）是最常见的非阿尔茨海默病性神经退行性疾病，在过去几十年中，因其对患者及其护理者的生活质量产生极大负面影响，而受到神经科学界的关注。帕金森病（PD）和阿尔茨海默病（AD）等相关病症存在很强的遗传因素，并且多个DLB家族也有相关描述，这表明遗传因素可能在DLB的发病机制中起作用。本章重点介绍目前提出的致病基因和风险基因及其在DLB病理生理学中的作用，讨论基因治疗和基因检测在DLB诊断和治疗中的可行性，并为未来研究提供方向。虽然没有单一突变特异性高到足以支持其常规用于DLB的诊断/治疗，但确定致病基因组合或干扰DLB发病机制的单基因点突变和风险基因，可能有助于阐明DLB涉及的遗传机制，并为基因特异性疗法的开发提供依据。
