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CASE STUDY #1 (Required)

Chen is cooking dinner for his family. He moves to pull a pot off the
stove and accidently touches the burner. Reflexively he pulls his
finger away from the stove and immediately feels the pain.

What is the role of the brain and spinal cord in this response?
Describe the three types of neurons involved in this response and
their role in the reflex arc. Explain the withdrawal reflex that results
in Chen moving his hand away from the stove.
Evolutionarily, why do you think the human body has this system in place? Why is this reflex important?
Chen’s wife, Amira, was born with congenital insensitivity to pain, a
condition that inhibits the ability to perceive physical pain. Find a
reliable source related to congenital insensitivity to pain and address
the following questions:

What is congenital insensitivity to pain?
What are some of the signs and symptoms of this condition?
In this week’s reading, you learned about the role of sodium ions in
the conduction of nerve impulses. Individuals with congenital
insensitivity to pain are unable to make a sodium channel called NaVi.7.
How is this related to the signs and symptoms of the disease?
What might happen if Amira had touched the burner? How would her response be different than Chen’s?
What advice would you give to a child who has this condition and is
interested in playing contact sports? What would happen if this child
experienced a fracture?


Agnes is 45 years old when she notices that her hands shake (tremor)
when she is performing everyday tasks like signing contracts at her law
firm. Her friends and family also notice that she is moving slower than
usual, and that she shuffles when she walks. After consulting with a
neurologist, Agnes is diagnosed with Early-Onset Parkinson’s disease.

What is Early-Onset Parkinson’s disease? How is the disease different from Parkinson’s disease?
What is the neurotransmitter affected by this disorder? What is this
neurotransmitter’s role? How does the decrease in the concentration of
this neurotransmitter explain Agnes’ symptoms?
What is the most common treatment for this disorder? What is the mechanism of action of the treatment?
Agnes’ neurologist refers her to a geneticist who later determines
that she carries an autosomal dominant mutation in the SNCA gene
associated with Early-Onset Parkinson’s disease. Find a reliable source
related to the relationship between the SNCA gene and Early-Onset
Parkinson’s Disease. Summarize the information you obtain. Based on your
research, would you advise her three children to have genetic testing
performed to determine if they also carry the disease mutation? Why or
why not? Include the appropriate reference and citation for the source
you consulted.

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