Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1

J Child Neurol. 2002 Aug;17(8):622-6; discussion 627-9, 646-51. doi: 10.1177/088307380201700813.

Abstract

Neurofibromatosis 1 is one of the most common single-gene disorders affecting neurologic function in humans. Mutations in the NF1 gene cause abnormalities in cell growth and differentiation and lead to a variety of learning disabilities. Neurofibromin has several biochemical functions, such as Ras-guanosine triphosphatase activity, adenylate cyclase modulation, and microtubule binding, all of which could be critical for brain function. We review how studies in mouse models are helping to unravel the molecular and cellular mechanisms underlying cognitive deficits in neurofibromatosis 1. These studies suggest that the learning disabilities associated with neurofibromatosis 1 are caused by excessive Ras activity that leads to increased gamma-aminobutyric acid (GABA(A)) inhibition and to decreased long-term potentiation. These findings have brought us closer than ever to the development of possible treatments for the learning disabilities associated with neurofibromatosis 1.

Publication types

  • Review

MeSH terms

  • Animals
  • Child
  • DNA Mutational Analysis
  • Disease Models, Animal
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Learning Disabilities / diagnosis
  • Learning Disabilities / genetics*
  • Mice
  • Mice, Neurologic Mutants
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics

Substances

  • Neurofibromin 1