Neurofibromatosis

Calley and Mickey

What Type of Mutation is it?

● Point Mutation● NF1: NF1 gene● NF2: NF2 gene● Schwannomatosis: INI1 gene

How Do You Obtain This Disease?

● Inherited, most of the time● Common random mutation

o Schwannomatosis: 85%o NF 1: 30-50%o NF 2: 50%

What are the Symptoms?

● Beginning: flat, dark brown spots● Neurofibromas

● Poor balance● Ringing in ears● Evolves into massive tumors on PNS

What is the Frequency of Occurrence?

● NF type 1: 1 in 3,000● NF type 2: 1 in 25,000● Schwannomatosis: 1 in 40,000

NF

These people are victims of NF.

Who Does it Affect?

● Anyone

What Areas Does the Disease Affect?

● NF1: Peripheral nervous system (PNS)

● NF2: 8th cranial nerve & PNS

● Schwannamatosis: Schwann cells

What are Some Treatments?

● Stereotactic radiosurgery● Removing cancerous tumors● High-concentrated radiation

What is it Like to Live With it?

● Deafness● Blindness● Difficulties with everyday tasks● Stay secluded from society

Work CitedDiagnosis of NF1. N.p.: The Children's Tumor Foundation, n.d. Web. 8 May 2014. <http://www.ctf.org/Learn-About-NF/Diagnosis-of-NF1.html>.Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis. N.p.: Elsevier Inc, 2014. Web. 8 May 2014. <http://www.sciencedirect.com/science/article/pii/S000292970761115X>.

Learning About Neurofibromatosis. N.p.: n.p., 2014. Web. 12 May 2014. <http://www.genome.gov/14514225>.Living with Neurofibromatosis. N.p.: HARPO PRODUCTIONS, INC, 2014. Web. 8 May 2014. <http://www.oprah.com/oprahshow/Living-with-Neurofibromatosis>.Neurofibromatosis. N.p.: Mayo Foundation for Medical Education and Research, 2014. Web. 8 May 2014. <http://www.mayoclinic.org/diseases-conditions/neurofibromatosis/basics/symptoms/con-20027728>.Neurofibromatosis. N.p.: Remedy Health Media, 2014. Web. 8 May 2014. <http://www.healthcommunities.com/neurofibromatosis/treatment.shtml>.NF1. N.p.: U.S. National Library of Medicine, 2014. Web. 12 May 2014. <http://ghr.nlm.nih.gov/gene/NF1>.N.p.: University of Miami, 2014. Web. 8 May 2014. <www.themiamiproject.org/page.aspx?pid=871>.Schwannomatosis. N.p.: The Children's Tumor Foundation, n.d. Web. 8 May 2014. <http://www.ctf.org/Learn-About-NF/Schwannomatosis.html>.

Stereotactic radiosurgery - CyberKnife. Rockville Pike, Bethesda: n.p., 2014. Web. 8 May 2014. <http://www.nlm.nih.gov/medlineplus/ency/article/007274.htm>.