Neurofibromatosis type 1

Am J Med Genet. Summer 2000;97(2):119-27. doi: 10.1002/1096-8628(200022)97:2<119::aid-ajmg3>;2-3.


Neurofibromatosis 1 (NF1) is an autosomal dominant neurocutaneous disorder with an incidence of approximately 1 in 4000. Cognitive deficits and academic learning difficulties are the most common neurological 'complication' of NF1 in childhood and can be responsible for significant lifetime morbidity. The NF1 gene is usually classified as a tumor suppressor gene, but it is not yet known how NF1 gene mutations cause many of the non-tumor manifestations of the disorder. The NF1 protein, neurofibromin is expressed early during embryonic development with high levels of expression in the brain, suggesting that it plays an important role in regulating the orderly differentiation of central nervous system neurons. The mouse model for NF1 demonstrates behavioral abnormalities which bear striking similarity to the cognitive phenotype observed in humans with NF1. This review summarises our current understanding of the function of the NF1 gene, the nature of cognitive deficits in this disorder and correlations between neuroradiological, pathological and neuropsychological findings and animal studies which provide an insight into the pathogenesis.

Publication types

  • Review

MeSH terms

  • Animals
  • Cognition Disorders / genetics
  • Cognition Disorders / psychology
  • Humans
  • Neurofibromatosis 1 / classification
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / psychology*
  • Phenotype