神经纤维瘤病
神经科学
神经学
疾病
自闭症谱系障碍
机制(生物学)
生物
生物信息学
医学
病理
遗传学
自闭症
精神科
哲学
认识论
作者
Valentina Botero,Seth M. Tomchik
标识
DOI:10.1186/s11689-024-09565-6
摘要
Abstract 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.
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