Neurofibromatosis type 1

Chapter

Abstract

  • Neurofibromatosis 1 (NF1) is one of the most common genetic disorders to affect the nervous system, with an estimated incidence of one in 3500 individuals worldwide. NF1 is characterized by a propensity to develop benign tumors of the nerve sheath (neurofibromas) along with other tumors of a variety of neural and non-neural tissues. Other features of NF1 include pigmentary abnormalities, skeletal dysplasias, learning disabilities, structural cerebral abnormalities, and vascular anomalies. NF1 is caused by a heterozygous mutation of the NF1 gene. NF1 functions as a tumor suppressor gene, which explains the propensity of tumor development but does not account for all the diverse features of NF1. The mainstay of care in NF1 is anticipatory guidance and surveillance for treatable complications, but clinical trials are now underway in the hopes of developing new therapies.
  • Digital Object Identifier (doi)

    International Standard Book Number (isbn) 13

  • 9780128093245
  • Start Page

  • 401
  • End Page

  • 407