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    14 May 2012| last updated at 10:00PM

    NEUROFIBROMATOSIS 101



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    • Neurofibromatosis (NF) is a disorder of the nervous system. NF is divided into three distinct subtypes — NF1, NF2 and Schwannomatosis. All three subtypes are clinically and genetically distinct. However, the three subtypes share an overlapping feature — benign tumours that grow on nerves.

    • NF2 is a genetic defect or a mutation (change) in a single gene located on chromosome 22. The defect is caused by an error in the process of copying genetic information and not caused by anything under a person’s control. It causes benign tumours to grow on the central and peripheral nervous system which includes the brain, spine and all other nerves.

    • NF2 is either inherited from affected parent(s) or results from a spontaneous mutation — in which case there is no prior history of NF2.

    • Nearly all those with NF2 develop vestibular schwannomas or tumours that grow on the hearing nerves (called the eight cranial nerve). The eight cranial nerve consists of two portions — the vestibular (balance) nerve and acoustic (hearing) nerve. Tumours that develop on the eight cranial nerve cause symptoms of hearing loss, ringing in the ears (tinnitus) and balance issues.

    • The age of onset and progression of NF2 varies from individual to individual. Most people diagnosed with NF2 become symptomatic in their late teens or early 20’s. However, some individuals may develop symptoms
    in their early childhood or as late as their 40’s or 50’s.

    • There is currently no cure for NF2. Treatment options include surgery, radiation therapy and more recently, experimental chemotherapy. Clinical trials are ongoing for a number of drugs which aim to destroy the blood supply of NF2-related tumours.

    source : www.ctf.org

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