Neurofibromatosis type 2

Neurofibromatosis type 2 is an often devastating autosomal dominant disorde r which, until relatively recently, was confused with its more common names ake neurofibromatosis type I. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superio r vestibular branch of the 8th cranial nerve, usually bilaterally. Meningio mas and other benign central nervous system tumours such as ependymomas are other common features. Much of the morbidity from these tumours results fr om their treatment. It is now possible to identify the NF2 mutation in most families, although about 20% of apparently sporadic cases are actually mos aic for their mutation. As a classical tumour suppressor, inactivation of t he NF2 gene product, merlin/schwannomin, leads to the development of both N F2 associated and sporadic tumours. Merlin/schwannomin associates with prot eins at the cell cytoskeleton near the plasma membrane and it inhibits cell proliferation, adhesion, and migration.