[Type 1 neurofibromatosis. Molecular and clinical aspects]

The pathogenesis of neurofibromatosis type 1 (NF1) is poorly understood. However, molecular studies have identified the NF1 gene and specific mutations that contribute to the development of NF1 have been found in afflicted patients. These mutations probably result in a loss of function of the NF1 gene product, a protein named neurofibromin which is thought to attenuate exaggerated growth of neuroectodermal tissues. The results of basic research could shed new light on our understanding of the clinical symptoms of NF1 and result in new approaches to diagnosis and therapy.