Parallels between tuberous sclerosis complex and neurofibromatosis 1: common threads in the same tapestry

Semin Pediatr Neurol. 1998 Dec;5(4):276-86. doi: 10.1016/s1071-9091(98)80006-5.


Neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) represent two neurocutaneous disorders in which affected individuals develop tumors at an increased frequency. Although the clinical manifestations of these disorders are distinctive, the identification of the genes responsible for these disorders has demonstrated remarkable similarities on a molecular level between the NF1 and TSC tumor suppressor gene products. The NF1 and TSC2 gene products are hypothesized to function as growth regulators by modulating the activities of small GTPase molecules. The overlap between the functions of these tumor suppressor genes has yielded important insights into the molecular pathogenesis underlying each of these disorders and suggested possible pharmacological therapies specifically targeted for affected individuals.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Calcium-Calmodulin-Dependent Protein Kinases / genetics
  • Cell Division / genetics
  • Child
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Genes, Tumor Suppressor / genetics
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / genetics
  • Signal Transduction / genetics
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / genetics


  • Calcium-Calmodulin-Dependent Protein Kinases