Neurofibromatosis 1.
Neurofibromatosis 1 is one of the most common genetic conditions affecting the nervous system. Individuals with NF1 are predisposed to the development of peripheral nerve sheath tumors (neurofibromas and MPNSTs), astrocytomas (optic pathway gliomas), learning disabilities, seizures, strokes, macrocephaly, and vascular abnormalities. The NF1 tumor suppressor gene encodes a large protein (neurofibromin) that functions primarily as a RAS negative regulator, suggesting that targeted therapy for NF1 might derive from inhibition of the RAS signaling pathway.
Lynch
Timothy M
TM
Department of Neurology, Washington University School of Medicine, Neurofibromatosis Program, St. Louis Children's Hospital, St. Louis, MO, USA.
Gutmann
David H
DH
D000328:Adult; D001254:Astrocytoma / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002648:Child; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D025542:Neurofibromin 1 / Q000235:genetics; D020339:Optic Nerve Glioma / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
D025542:Neurofibromin 1