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Neurologic disorders/quizlet
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Recommended: Neurologic disorders/quizlet
I.
A. Neurofibromatosis, or NF, is the most common neurological disorder caused by a single gene.
B. Two types: NF1 and NF2
1. NF1- affects 1 out of 4,000 people
2. NF2- affects 1 out of 50,000 people
C. Inherited and autosomal
D. Can be potentially fatal
E. The Elephant Man, Joseph Merrick, was thought to have NF, but he really had Proteus syndrome
F. Neurofibromatosis is a unique disorder because it is incurable, can be severely disfiguring, and can be either benign or terminal.
II.
A. NF is caused by a mutation in the NF1 gene, which creates the protein neurofibromin.
B. It is a potentially dangerous disorder
1. No cures or treatments
2. Some neurofibromas, or tumors, can be surgically removed
C. Around the 1990’s, there was excitement because scientists had found the gene that caused the disorder
D. However, they didn’t find a cure
1. Surgical removal of tumors proves to be a viable option, but it is not a cure
2. “...Rapidly growing tumors are removed as they may become malig...
FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
Walton, Sir John. Brain's Diseases of the Nervous System. Oxford University Press. New York, 1955, pp. 365.
-Reilly Philip. Is It In Your Genes. Cold Spring Harbor Laboratory Press. 2004: 223-228. Print
James Parkinson. It’s not certain how long the disease has existed but its probably been around
research. All that was known is that Rasmussen’s encephalitis was a degenerative disease of the brain
Neurofibromatosis is caused by the loss of function mutation in the Nf1 gene. Nf1 encodes neurofibromin, a protein with a Ras GTPase activating domain. Neurofibromin is critical for the regulation of proliferation and differentiation of progenitor cells. It has bee...
The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Once a patient has been notified of a tumor growing in their body, it changes their attitude and the potential future in their eyes. The chance of living by treatment is worth way more than living without treatment.
For cancer patients there are several treatment options. Surgery can remove cancerous tumors, chemotherapy uses drugs for treatment, and radiation therapy. The doctor in charge of the patient’s treatment may also choose to use radiation therapy. “Radiation
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For this genetic disorder assignment, I chose Marfan Syndrome, which is a mutation in your connective tissue. Connective tissue holds our body together by holding the blood where it is suppose to be, the organs in place and keep our tissue in place. This connective tissue also helps you grow in height and go through the stages you need to. The disorder results in abnormally long and thin digits in your genes and also frequently in optical and cardiovascular defects. Our connective tissue is made up of many proteins and the protein that affects Marfan Syndrome would be fibrillin-1, which in this disorder is a defect in the body on how to make this protein. The Transforming Growth Factor Beta (TBF-β) protein takes
Did you come across any other names for the disease, gene or protein? List them.
The definition for “tumor” has undergone several changes largely due to scientific advancement in our understanding of cancer and the ability to differentiate one form from another. Tumor originally applied to the swelling caused by inflammation, but the non-neoplastic usage of tumor has almost vanished; thus, the term is now equated with neoplasm, and sometimes interchangeably used with the term cancer. Currently, a tumor is generally defines as an abnormal mass of tissue, the growth of which exceeds and is uncoordinated with that of the normal tissues and persists in the same excessive manner after cessation of the stimuli which evoked the change [1]. Over the past 5 decades, cancer research has received tremendous attention from the global scientific community with frantic efforts to answer some fundamental questions about the very nature of cancer; how different is one cancer from the other?; how do cancer evade the host’s defense surveillance and at precisely what point?; how do cancer metastasize coupled with their seemingly preference for
The cancerous cells can invade and destroy surrounding healthy tissue, including organs. ‘’ For many years the struggle to find a cure for cancer has been increasing. Although we have made advances in our cancer treatments and tests to identify the illness there is still no definite cure. There are currently many scientists, labs and organisations spending endless time and money working hard to find a cure. Each days we become closer and have the reason to believe that a cure is in the foreseeable future. Therefore this is classed as a scientific theory that is currently being addressing, as we see that it is a problem that has the potential to be