This project was done to define and classify hereditary tumors of the nervous system such as occur in neurofibromatosis; to add to the clinical description and natural history of these diseases; to suggest methods for early diagnosis; to evaluate present modes of treatment: and to develop methods for preclinical detection and screening. Our studies have led to the recognition of a preventable cause of deafness, visual loss or even death: neurofibromatosis 2 or bilateral acoustic neurofibromatosis. The genes for two distinct forms of neurofibromatosis have now been mapped to specific chromosomes . Recent contributions based on experience with over 100 individuals have been made at the clinical, genetic, epidemiologic, and management level. We are also organizing a consensus conference dealing with acoustic neuroma at which time the implications of these contributions will be weighed. Our first major study involving neurofibromatosis 1 (NFl) a multidisciplinary project, demonstrated mild but consistent impairment of neurologic and cognitive status in these patients compared to their unaffected sibs. A second study assessing the burden of NF1 and attitudes towards predictive testing has been completed. There is great interest in such testing but most would not terminate a positive pregnancy.
