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Neurofibromatoses 6.53.15 PM

Neurofibromatoses 6.53.15 PM - Neurofibromatosis Nichele...

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Unformatted text preview: Neurofibromatosis Nichele McCreery Nichele July 22, 2004 BIO 316 What is it? What Neurofibromatosis 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 Two Neurofibromatosis occurs 1 (NF1) in 1:4,000 births Located on Chromosome 17 Characterized by multiple cafe-au-lait spots and Characterized neurofibromas on or under the skin. Enlargement and deformation of bones and Enlargement curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on Occasionally, cranial nerves, or on the spinal cord. cranial Common Signs of NF 1 Common Two Types Two Neurofibromatosis occurrs occurrs 2 (NF2) in 1:40,000 births. Located on Chromosome 22 Characterized by multiple tumors on the cranial Characterized and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are Tumors the hallmark. Hearing loss beginning in the teens or early Hearing 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 Frequent 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 parent’s 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 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 Opportunities Medical Studies Clinical Trails through NF.org Clinical NF.org Clinical Trails through ClinicalTrials.gov Clinical ClinicalTrials.gov Medline Plus for additional resources ...
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