Neurofibromatosis

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Neurofibromatosis

• By J.R.
• 03/07/02
• Biology

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Neurofibromatosis

• Genetic disease that affects the development of
  nerve tissue in the nervous system.
• Two main types (NF1 and NF2).

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Diagnoses

• Nf1 and NF2 were known as one decease because of
  their similar symptoms

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Diagnoses

• They are still grouped together today even though
  they come from different genes

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Diagnoses

• Diagnosed by looking at symptoms
• Can be tested before birth using amniocentesis or
  chronic villus

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Life style

• Patients can live a productive life unless tumors
  that are formed press against vital organs

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NF1facts

• More common than NF2
• 1 in 4000 people in the US has it

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NF1-NF2 Symptoms

• Constant tumors
• Skin mutations
• Bone deformation

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Just FN1 Symptoms

• Light brown skin spots
• Freckling
• Growth on the Iris
• Tumors on optic nerves
• Curvature of spine

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Just FN1 Symptoms

• Enlargement of bones
• Unusually big head with small body
• Learning disabilities
• Speech difficulties

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Just FN1 Symptoms

• Increased muscle activity
• Uncontrollable electric activity in the brain

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NO CUREBut
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Treatments

• Doctors can efficiently treat symptoms
• Surge helps people with bone malformations
• Bone braces cure slight bone abnormalities

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Treatments

• Freckling is stopped by suppressing the freckles
• Chemotherapy, surgery, and radiation treat tumors

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Treatments

• Tumors are treated only when cancerous because of
  the risk of treating them
• 3 to 5 of tumors become cancerous

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Treatments

• An MRI is used to carefully locate the tumors
  before any steps are taken
• This ensures precision

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Genes

• ND1 is an autosomal dominant gene
• Located in chromosome 17
• 30-50 of cases occur because spontaneous
  mutations

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Genes

• The NF1 gene codes for the protein neurofibromin
• This protein is a GAP protein
• GAP Guanosine triphosphatase-activating

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Genes

• Neurofibromin and all the GAP proteins play a
  significant role in tumor suppression
• No or less than normal neurofibromin allows for
  abnormal cell growth

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NF2 facts

• Mostly the same as NF1
• Gene is called the 22q12.2 gene

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NF2 facts

• Gene is Located in chromosome 22
• 1 in 40000 people have it in the US

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Symptoms

• Same as NF1, but also include
• Early cataracts
• Constant headaches
• Pain or numbness on face

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Symptoms

• Bilateral nerve tumors

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In the future

• Knowing the genes and proteins coded for in both
  deceases can help in future treatments

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In the future

• The pharmacological inset of neurofibromin could
  stop the growth of tumors OR
• Genes could be repaired so that they could make
  neurofibromin

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For more information visit

• www.ninds.nih.gov/diseace/neurofib.html
• Hvlib.integris-health.com/library/HealthGuide/Illn
  essConditions/topic.asp?hwidnord792