Neurofibromatosis+(NF1,+NF2)

Facts and Theories
Neurofibromatoses affect the growth and development of nerve cells, and is the most common disorder of the nervous system. This genetic disease can be inherited, but is usually the cause of a gene mutation. the NF1 gene is found on chromosome 17, and the NF2 gene on chromosome 22. NF1 and NF2 are two different diseases. NF1 affects the peripheral nervous system and NF2 affects the central nervous system. NF1 is the more common form of the disease. NF1 is also known as peripheral NF or von Recklinghausen NF(after the person who first described it) NF2 is also called bilateral acoustic neurofibromatosis, or central bilateral acoustic NF

NF1 usually doesn't stop a person from leading a normal life, but it does get in the way in some cases. If NF2 damages important structures, it can kill someone. ([|http://www.ninds.nih.gov/...])

Schwannomatosis is another kind of Neurofibromatosis, but it is very rare.

Symptoms
NF1:
 * Pigmented spots on skin called cafe au lait spots- at least 5mm wide in children and 15mm wide in adults.
 * Neurofibromas can develop, which are benign growths that can result in bone problems. People with NF1 may also have learning disabilities.
 * Can result in deformed or enlarged bones, or even scoliosis.

NF2:
 * Growths develop around nerves of the ear, which can cause deafness.
 * Other benign growths can develop in other parts of the central nervous system (brain, spinal chord, etc.).

Incidence

 * Both sexes and all ethnic groups can get NF.
 * The incidence rate of NF1 is one in four thousand.
 * NF2 has an incidence rate of one in forty thousand.
 * Half of all people who develop NF also have learning disabilities.
 * Most of the cases are caused by mutations, that can then be passed down to offspring. ([|http://www.ninds.nih.gov/...])

Testing and Screening

 * Because the NF1 gene mutates a lot, it is usually diagnosed by clinical symptoms.
 * There are DNA tests for NF, and they can help find children who have NF2.

Cause
NF1: NF2:
 * Mutation in the NF1 gene on chromosome 17
 * Mutation in the NF2 gene on chromosome 22

Treatment

 * No cure for either disease
 * NF can be surgically removed, but this is hard because tumors are usually located in the central nervous system
 * Tumors can sometimes become malignant, and it has to be treated by chemotherapy or radiation (cancer treatments)

Links
[|Neurofibromatosis Information Page: National Institute of Neurological Disorders and Stroke] http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm