Department of Neuroscience and Pharmacology, University of Iowa, Iowa City, IA, USA.
Department of Neuroscience, Scripps Research, Scripps Florida, Jupiter, FL, USA.
J Neurodev Disord. 2024 Aug 31;16(1):49. doi: 10.1186/s11689-024-09565-6.
Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features.
神经纤维瘤病 1 型（OMIM 162200）影响全球约每 3000 人中的 1 人，是影响大脑功能的最常见的单基因神经遗传疾病之一。该疾病影响包括中枢神经系统在内的各种器官系统，导致一系列临床表现。在了解该疾病的病理生理学方面已经取得了重大进展，但在了解复杂的信号转导和系统相互作用如何影响该疾病方面仍存在差距。该疾病的两个特征是神经元功能和代谢的改变，并且有新的证据表明它们之间存在潜在关系。本综述总结了神经纤维瘤病 1 型的特征和疾病机制的最新研究发现，重点介绍神经元和代谢特征。
