title: Neurofibromatosis.
abstract: The "neurofibromatoses" are a set of distinct genetic disorders that have in common the occurrence of tumors of the nerve sheath. They include NF1, NF2, and schwannomatosis. All are dominantly inherited with a high rate of new mutation and variable expression. NF1 includes effects on multiple systems of the body. The major NF1-associated tumor is the neurofibroma. In addition, clinical manifestations include bone dysplasia, learning disabilities, and an increased risk of malignancy. NF2 includes schwannomas of multiple cranial and spinal nerves, especially the vestibular nerve, as well as other tumors such as meningiomas and ependymomas. The schwannomatosis phenotype is limited to multiple schwannomas, and usually presents with pain. The genes that underlie each of the disorders are known: NF1 for neurofibromatosis type 1, NF2 for neurofibromatosis type 2, and INI1/SMARCB1 for schwannomatosis. Genetic testing is possible to identify mutations. Insights into pathogenesis are beginning to suggest new treatment strategies, and therapeutic trials with several new forms of treatment are underway.
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: bkorf@uab.edu.
authors.forename: Bruce R
authors.initials: BR
authors.lastname: Korf
mesh_terms: D001921:Brain / Q000473:pathology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D017253:Neurofibromatoses / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D025542:Neurofibromin 1 / Q000235:genetics*
chemical_list: D025542:Neurofibromin 1