Unformatted text preview: Neurofibromatosis
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
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
occurs 1 (NF1) 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.
cranial Common Signs of NF 1
Common Two Types
occurrs 2 (NF2) 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
Hearing loss beginning in the teens or early
twenties is generally the first symptom.
twenties 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
Brief Picture found at: http://www.jci.org/cgi/content/full/112/12/1791 Frequent Q & A’s
Q. Is neurofibromatosis an inherited
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 parent’s case of NF predict what
his or her child with NF will
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
NF.org Clinical Trails through ClinicalTrials.gov
ClinicalTrials.gov Medline Plus for additional resources ...
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- Fall '11
- Clinical trial, Neurofibromatosis