title: Neurofibromatosis 1: from lab bench to clinic.
abstract: Neurofibromatosis type 1 is a common autosomal dominant disorder in which affected children and adults develop both benign and malignant tumors. In addition to tumor formation, children with neurofibromatosis type 1 may exhibit specific learning disabilities, distinctive bony abnormalities, and hyperpigmented lesions (cafe-au-lait macules, skinfold freckling, and Lisch nodules). With the identification of the neurofibromatosis 1 gene in 1990, significant strides have been made towards elucidating the pathogenesis of specific clinical problems in neurofibromatosis type 1 and developing first-generation, biologically based targeted therapies. Recent advances in mouse modeling have likewise yielded important insights into the genetic and cellular mechanisms underlying neurofibromatosis 1-associated tumor formation and learning disabilities. This review will focus on the clinical features of neurofibromatosis type 1, the molecular biology of the neurofibromatosis 1 gene, and the use of mouse modeling to recapitulate the human condition.
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
authors.forename: Beth Ann
authors.initials: BA
authors.lastname: Ward
authors.forename: David H
authors.initials: DH
authors.lastname: Gutmann
mesh_terms: D000818:Animals; D002648:Child; D004195:Disease Models, Animal; D006801:Humans; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy