Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by the occurrence of bilateral vestibular schwannomas and other central nervous system tumors including multiple meningiomas. Genetic linkage studies and investigations of both sporadic and familial tumors suggest that NF2 is caused by inactivation of a tumor suppressor gene in chromosome 22q12. We have identified a cand...

The neurofibromatosis type 2 (NF2) tumor-suppressor protein Merlin is a member of the ERM family of proteins that links the cytoskeleton to the plasma membrane. In humans, mutations in the NF2 gene cause neurofibromatosis type-2 (NF2), a cancer syndrome characterized by the development of tumors of the nervous system. Previous reports have suggested that the subcellular distribution of Merlin i...

OBJECTIVE To gain insight into the pathogenesis of neurofibromatosis type 2 (NF2) by investigating the ocular manifestations of this disease. METHODS Using standard histologic techniques, immunohistochemistry, and electron microscopy, we described the ocular pathologic findings of a 34-year-old woman who died from complications of NF2. RESULTS We identified 3 types of NF2-associated lesions...

Neurofibromatosis type 2 (NF2) is a dominantly inherited disease associated with the central nervous system. The NF2 gene product merlin is a tumor suppressor, and its mutation or inactivation causes this disease. We report here the crystal structure of the merlin FERM domain containing a 22-residue alpha-helical segment. The structure reveals that the merlin FERM domain consists of three subdo...

Neurofibromatosis 2 (NF2) protein (merlin; schwannomin) is a tumor suppressor involved in tumorigenesis of NF2-associated and sporadic schwannomas and meningiomas. The protein shares the domain structure of three homologous proteins: ezrin, radixin and moesin (ERM). ERM proteins function as membrane organizers and may act as linkers between plasma membrane molecules, such as CD44 and ICAM-2, an...

The neurofibromatoses consist of at least three autosomal-dominant inherited disorders: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. For over 80 years, these conditions were inextricably tied together under generalized neurofibromatosis. In 1987, the localization of NF1 to chromosome 17q and NF2 (bilateral vestibular schwannoma) to 22q led to a consensus ...

two cases of multiple concomitant cns tumors of different histologic types are presented.  one was a case of neurofibromatosis type 2 (nf2) with 6 cns tumors, and the other a case of 4 cns tumors without any evidence of nf. to our knowledge, there is no report of concomitant occurrence of 6 cns tumors in the medical literature. neuroradiological  and operative findings are illustrated and discu...

Dear Editors: We would like to add some new information regarding the patient described in the paper entitled, “Surgical treatment of acquired restrictive strabismus in infancy: case report”, published in Arquivos Brasileiros de Oftamologia in 2009. We stated that the diagnosis in the reported case was unclear despite extensive investigations. After surgical treatment of acquired restrictive st...

Bilateral vestibular schwannomata and meningiomata are the tumours most commonly associated with neurofibromatosis type II (NF2). These tumours may also be seen in patients with schwannomatosis and familial meningioma, but these phenotypes are usually easy to distinguish. The main diagnostic challenge when managing these tumours is distinguishing between sporadic disease which carries low risk ...