Neurofibromatosis

Nichele McCreery July 22, 2004 BIO 316

What is it?

Neurofibromatosis (NF) is a set of dominant genetic disorders, which causes tumors to grow along various types of nerves. In addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities.

Two Types

Neurofibromatosis 1 (NF1)
occurs

in 1:4,000 births Located on Chromosome 17 Characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord.

Common Signs of NF 1

Two Types

Neurofibromatosis 2 (NF2)
occurrs

in 1:40,000 births. Located on Chromosome 22 Characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom.

Older patients with NF2 may develop tumors throughout the brain (indicated by arrows). These tumors are very slow growing.

Photo by: www.nf.org

Brief Biology of NF

Picture found at: http://www.jci.org/cgi/content/full/112/12/1791

Frequent Q & As
Q. Is neurofibromatosis an inherited disorder? A. Yes. In 50% of the cases NF is inherited from a parent. The remaining half of NF cases occur as the result of a new or spontaneous mutation (change) in the sperm or egg cell.
Facts: www.nf.org

Q. Will a parents case of NF predict what his or her child with NF will experience? A. The type of NF (NF1 or NF2) inherited by the child is always the same as that of the affected parent. However, the number and severity of the manifestations of NF may differ from person to person within a family.

Q. Can NF skip a generation? A. No, if a family has a history of NF, it is passed directly from parent to child. As a dominant trait, each pregnancy has a 50% chance that the child of an NF parent will have NF.

Treatment
At the present time there is no known cure for NF or preventative treatment.

However, NNFF-sponsored research is working towards effective treatment.

Research / Participant Opportunities

Medical Studies Clinical Trails through NF.org Clinical Trails through ClinicalTrials.gov

Medline Plus for additional resources