1. PowerPoint by Jody Baker
Patient 6
PowerPoint by Jody Baker

2. Case Report
A 35 year old teacher named Susan was referred to us from a psychologist here. She was being treated for depression and mild mood swings until new physical symptoms emerged. Her hands and feet involuntary move in an almost dance like movement. Her mother apparently had the same symptoms, but died in a car crash before she was diagnosed. She also claims to have trouble remembering little things, to be more clumsy, and to fall more often now.

3. Diagnosis
She was determined to have Huntington’s Disease for several reasons:
One form of the disease is adult onset, at about her age of 35
It is hereditary as, assuming her mother had it, she had a 50% chance of getting this disease
The symptoms include quick or sudden movements of the limbs or body parts, moodiness, loss of memory

4. The Cause of Huntington’s Disease
The disease is caused by a CAG trinucleotide repeat. A protein called huntingtin is produced by this gene called HTT and, in normal people , the CAG segment is repeated 10 to 35 times. In people with Huntington's Disease, the segment is repeated 36 to 120 times. While those with repeats up to 40 may not show symptoms, above that almost always leads to the disease. Anyone with more than 36 repeats can pass down the disease.

5. The Effects of Huntington's Disease
The repeat causes an elongated huntingtin protein that is cut into small fragments. Those fragments are toxic and pool in neurons while binding together. They eventually inhibit the cell’s function and lead to its death. As many neurons die, certain areas of the brain begin to lose functionality and the disease becomes noticeable.

6. What Areas of the Brain Are Affected?
Basal ganglia, cerebral cortex, the frontal, and temporal lobes
Responsible for movement, complex, thought, emotion, problem solving, memory, and language

7. Life With Huntington’s Disease
The disease is incurable , but certain aspects are treatable.
Drugs like amantadine and tetrabenazine can control extra movements.
Dopamine blockers can help reduce abnormal behaviors and movements
Anitpsychotic drugs like haloperidol or clonazepam can help reduce random movements and hallucinations and delusions. They can, however, worsen the stiffness and rigidity called dystonia.
They may also experience depression and need to be monitored, possible needing 24-hour care.
Most can only expect 15 to 20 years more after the disease becomes evident.

8. Professionals Who Can Help
It is recommended that anyone with this disease should seek a psychologist, and a DNA analyst.
A caregiver may be necessary or even a long term nursing facility

9. DNA Analyst
The number of CAG repeats can indicate the severity of this disease, so it is recommended that the gene for the huntingtin protein on chromosome 4 is analyzed.

10. Psychologist
A psychologist is of the utmost importance for anyone with this disease because most people do not die of the disease, they commit suicide. A psychologist can help people with this disease enjoy whatever time they have.

11. Sources
Miller, J. (2011, December 02). How Huntington’s Disease affects the brain. Retrieved from
(2008, October). Huntington disease. Retrieved from
(2011, April 30). Huntington's disease. Retrieved from
Huntington's Disease (Huntington Disease). Retrieved from
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