NF2, the abbreviation for NeuroFibromatosis type 2, is a debilitating CNS (Central Nerve System) disorder caused by multiple tumors that grow on nerves within the head and body. NF2 is primarily noted for attacking the cranial nerves needed for hearing and balance, resulting in hearing loss and mobility issues. There is no cure.
In brief, NF2 is referred as a genetic disorder (whether it occurred by familial or spontaneous means) since it involves a mutated NF2 gene – a tumor suppressor gene – of the 22nd Chromosome. It may also be referred as MISME (Multiple Inherited Schwannomas, Meningiomas, Ependymomas) as a mnemonic to remember the disease.
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop. Continue Reading..
– D Gareth Evans, MD, FRCP. Neurofibromatosis 2, NCBI Bookshelf PMID 20301380
- Neurofibromatosis 2 – National Center for Biotechnology Information (NCBI), PubMed
- Neurofibromatosis type 2 – National Institute of Health (NIH) Genetics Home Reference
- NEUROFIBROMIN 2; NF2 – Online Mendelian Inheritance in Man® (OMIM®), Johns Hopkins University
- NF2 Mutation Database – Institute of Medical Genetics in Cardiff UK