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All about neurofibromatosis neurofibromatosis type 1 (NF1) neurofibromatosis type 2 (NF2) causes of neurofibromatosis symptoms of neurofibromatosis diagnosis of neurofibromatosis treatment for neurofibromatosis

What's neurofibromatosis type 2 (NF2)?

Neurofibromatosis type 2 (NF2) is genetic disorder characterized by the growth of benign tumors of both acoustic nerves (the nerves to the ears). These tumors are called acoustic neuromas or, more precisely, vestibular schwannomas. They cause tinnitus (ringing in the ears), hearing loss, and problems with balance. Other findings in NF2 include schwannomas of other

nerves, meningiomas, and juvenile cataracts. NF2 is inherited in an autosomal dominant manner and is due to mutation in the NF2 gene in chromosome band 22q12.2 which encodes a protein called merlin. About 50% of persons with NF2 inherit it from an affected parent and the other 50% with NF2 have a new gene mutation. Anyone with NF2 has a 50% risk of transmitting it to each of their children. Prenatal testing is available.

Neurofibromatosis 2 is a less common but extremely serious disorder, occurring with an incidence of ~1 in 40,000 persons. The characteristic growth of NF2 is the vestibular schwannoma, a benign, slow growing tumor on the vestibular branch of the acoustic nerve (8th cranial nerve) that can cause loss of hearing and balance, and usually occurs bilaterally. However, other tumors, particularly meningiomas, spinal schwannomas, and ependymomas, are also frequent. In addition, many patients develop posterior subcapsular lens opacities (cataracts). The same tumor types that occur as multiple growths in NF2 also occur as sporadic, solitary tumors in the general population. The tumors of NF2 are histologically benign, but their anatomical locations make management difficult. While they cause functional loss by compressing adjacent nerves, surgical removal often risks permanent nerve damage. The growth of Schwann cells to produce schwannomas or arachnoidal cells to produce meningiomas in NF2 (and in sporadic equivalents) is due to inactivating mutations in a tumor suppressor gene on chromosome 22q, which encodes merlin. Merlin is a 66 kDa protein that shows similarity to the ERM family (ezrin, radixin moesin) that act as linkers between integral membrane proteins and the actin cytoskeleton. Like the ERMs, merlin has an amino-terminal FERM domain (protein 4.1 family domain) and a long carboxyl-terminal alpha helical region, and has been localized to areas of membrane remodeling, suggesting a role in cell communication, adhesion and motility.

More information on neurofibromatosis

What is neurofibromatosis? - Neurofibromatosis is a genetic disorder that causes tumors to form on nerves throughout the body. Neurofibromatosis causes tumors to grow on nerves.
What's neurofibromatosis type 1 (NF1)? - Neurofibromatosis 1, also known as von Recklinghausen neurofibromatosis, is one of the most frequent dominant disorders in man.
What's neurofibromatosis type 2 (NF2)? - Neurofibromatosis type 2 (NF2) is genetic disorder characterized by the growth of benign tumors of both acoustic nerves.
What causes neurofibromatosis? - A child with neurofibromatosis has often been passed (inherited) a gene with a misprint in it from one parent. The gene causes neurofibromatosis.
What're the symptoms of neurofibromatosis? - Symptoms of neurofibromatosis include speech impairment, learning disabilities, eizure disorder.
How is neurofibromatosis diagnosed? - The diagnosis of neurofibromatosis is generally made based on physical findings.
What's the treatment for neurofibromatosis? - There are no available treatments for the disorders which underlie either type of neurofibromatosis.
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