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jenny morales

on 27 April 2013

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Finally References What is Parkinson's Disease? Parkinson's Disease - nuerodegenerative brain disorder: CNS- motor system disorder
- not fatal
- no cure
- In Parkinson's patients, these dopamine-producing cells (substantia nigra of the midbrain) are damaged, dead, or otherwise degenerated --> causing a lack of communication between the brain and the muscles leading to --> the nerve cells to fire wildly, leaving patients unable to control their movements.
- Dopamine: transmits signals within the brain to produce smooth movement of muscles Genetic Basis Parkinson’s disease can be caused by genetic mutations, but most of the time is due to the interaction between multiple genetic and environmental risk factors. Some mutated genes related to Parkinson are SNCA, LLRK2, PARKIN, PINK1, DJ1, ATP13A2, PLA2G2, FBXO7, UCHL1, GIGYF2, HTRA2, and EIF4GI. There are more genes and gene loci that contribute to the risk factor of Parkinson disease, but need to go under further investigation. Mutation in gene LRRK2 has shown to increase the likelihood of obtain Parkinson’s.
- It has been found that mutations of these genes are some of the underlying causes. In some causes there can be multiple mutations in one gene. - drugs: levodopa, segeline, anticholigernic
- physical therapy, speech therapy
- surgical interventions: pallidotomy, deep brain stimulation, Symptoms of Parkinson's Disease - tremors
- bradykinesia
-rigid muscles
- impaired posture and balance
- loss of autonomic functions
- speech changes Is PD inherited?
- Most cases of Parkinson disease occur in people with no apparent family history of the disorder.

- These sporadic cases may not be inherited, or they may have an inheritance pattern that is unknown.

- 41% of PD patients inherit the disease as an autosomal dominant By: Jenny Morales
& Stephanie Aruca - digestion problems
- depression
- low blood pressure Is life expectancy affected? Multiple Genotypes Specific health conditions Treatment Yes, Parkinson’s does have multiple Genotypes:

Genotype: GG Gene or region: LRRK2

Genotype: TT Gene or Region: GBA

Genotype: CT Gene or Region: SNCA

Genotype: AA Gene or Region: MAPT

Genotype: GG Gene or region: PARK16

Genotype: AA Gene or region: Park16

Genotype: AA Gene or region: BST1

Genotype: CC Gene or region: DGKQ

Genotype: AC Gene or region: STK39 Health conditions in advanced Parkinson's disease:

•Cognitive decline and behavioral problems (psychosis)
•Communication (speech)
•Difficulty with urination
•Impaired performance of activities of daily living
•Sexual dysfunction
•Walking and balance problems
•Weight loss
•depression Genetic testing available? -Genetic testing for Parkin and DJ-1 has become increasingly commercially available
- genetic testing should not be recommended lightly as a diagnostic test. testing must be accompanied by other tests

-Genetic testing allows for genetic counseling where couples can find out if they are carriers of the mutated genes and, therefore, knowing how likely they are to pass them on to their children. Disease is more common in... - Affects 1 million people in North America and over 4 million people world wide

- Average age: around 62
- before the age of 50: Young-Onset Parkinson’s disease.
- Men have a slightly higher prevalence rate than women.
- No race or specific region of the world has been found to be completely devoid of the disease. - One can expect people with Parkinson's disease to complete their natural life cycle
- As long as they maintain a healthy diet, seek assistance for depression/psychosis,Undergo therapy, and take their medication http://parkinson.org/



https://www.23andme.com/health/Parkinsons-Disease/techreport/ How is QOL affected? - physical, mental and social
> PHYSICAL: loss of the ability to do hobbies (ei. such as sowing)
> MENTAL: loss of cognitive function and suffer from depression
> SOCIAL: depression… want to be left alone
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