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) the classical form as described by von Recklinghausen (neurofibromatosis 1) recently isolated on #17, and 2) a form in which bilateral acoustic neuromas are the hallmark (neurofibromatosis 2) may be on #22. Efforts in the latter have been directed at improving and simplifying screening of high-risk individuals, confirming diagnosis, establishing criteria for intervention, and isolating and characterizing the gene. A consensus conference dealing with these issues is planned for June, 1991. 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.
