Journal of Neurodevelopmental Disorders (Aug 2024)

Unraveling neuronal and metabolic alterations in neurofibromatosis type 1

  • Valentina Botero,
  • Seth M. Tomchik

DOI
https://doi.org/10.1186/s11689-024-09565-6
Journal volume & issue
Vol. 16, no. 1
pp. 1 – 16

Abstract

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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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