In this project we seek to define and classify hereditary tumors of the nervous system such as occur in the neurofibromatoses; 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. 1) 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, a multi-disciplinary 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 NFI and attitudes towards predictive testing has been completed. There is great interest in such testing but most would not terminate a positive pregnancy.
