- Introduction
- What is NF1?
- NF1 Symptoms
- What is NF2?
- NF2 Symptoms
- Causes of NF
- Treatments
- Bibliography
- E-mail Suggestions
- Links
- Images
Animation courtesy of:Sector Seven
Introduction:
Neurofibromatosis is a disorder of the nervous system. It is a progressive autosomal dominant disease,it affects all races and both genders equally. This disease basically affects the growth and operation of or nerve cells. Neurofibromatosis does thisby nerve tumors, called neurofibromas, for which the disease is named. The nerve cell is the basic building block of the nervous system. As shown in the graphic below there are two divisions of the nervous system. The central nervous system includes the brain and the spinal cord. The peripheral nervous system includes all other senory nerves, motor nerves etc. Medical researchers have divided neurofibromatosis into two types. These are abbreviated as NF1 and NF2.
Image courtesy of:The Society for Neuroscience
Neurofibromatosis, Type 1
NF1 affects about 1:4,000 people. It is the more common of the neurofibromatoses. NF1 used to be called peripheral NF because it usually affects only the peripheral nervous system. In addition to causing nerve tumors, called neurofibromas, NF1 can cause severe bone deformations and/or scoliosis (curvature of the spine.)Symptoms of NF1
Some Symptoms of Neurofibromatosis, Type 1 include:- Multiple large cafe-au-lait (light brown) spots whichare evidence of nerve tumors under the skin.
- Multiple neurofibromas or a single plexiform neurofibroma(one involving many nerves.)
- Benign growths on the optic nerve (optic glioma) or the iris
- Bone deformations
- Scoliosis
What is NF2?
NF2 is a type of neurofibromatosis that primarily affects the Central Nervous System. NF2 is characterized by a tumor on the eigth cranial nerve. This nerve affects hearing and balance. As a result these are usually the first to go in a sufferer of this disease. NF2 does not have the severe bone deformationsor scoliosis of NF1. However, the neurofibromas occur on nerves that enter the brain via small openings in the cranium. Tumors on these cranial nerves can be lethal if they cause damage to vital parts of the brain, such as the brain stem, which controls heart beat and breathing. Symptoms of NF2 may appear as early as the teen years.Symptoms of NF2
Some symptoms of Neurofibromatosis, Type 2 include:- Tumors on the spine
- Loss of balance
- Tinnitus (ringing in the ear)
- Total hearing loss
- Facial pain or numbness
- Headache
- Death
Causes of NF1 and NF2
Little is known about the causes of NF. Scientists have, however, located the NF1 gene on chromosome 17 and the NF2 gene on chromosome 22. It has been hypothesized that this mutation decreses or inhibits the production of GAP, a tumor suppressing protein. This would explain the occurence of tumors and abnormal bone growths.Treatments
As stated above, there is no known cure for Neurofibromatosis.Treatment, at this stage, is therefore limited to thelessening of symptoms. Surgery can be used to remove disabling or merely ugly bone deformations. A combinationof surgery and back braces are usually effective against scoliosis. In the off chance (about 3-5%) that the neurofibromas become malignant chemotherapy is necessary.Bibliography
(You can find links to all these sites at the Links Page.)NINDS Home Page National Institutes of Health. ©1997. <http://www.ninds.nih.gov>.
Neurofibromatosis Inc. Website NeurofibromatosisInc. ©1998. <http://www.nfinc.org>.
Neurofibromatosis Resources Massachusets GeneralHospital at Harvard. <http://www.neurosurgery.mgh.harvard.edu/NFR>.