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Parkinson’s disease

Done by: 1-khalid H. al- hattab 2-khalid kamal termanini 3- abdulaziz al kahmuos 4-ali hamdan al harbi 5- abdullah S. al mahmasah 6- khalid abo al’ola. Parkinson’s disease. Road map. Item 1. Item 2. Parkin gene & its normal function.

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Parkinson’s disease

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  1. Done by:1-khalid H. al-hattab2-khalid kamaltermanini3- abdulaziz al kahmuos4-ali hamdan al harbi5- abdullah S. al mahmasah6- khalid abo al’ola Parkinson’s disease

  2. Road map Item 1 Item 2 Parkin gene & its normal function What happen if there is parkin gene mutation Overview of PD Signs Diagnosis & treatment Item 3 Item 4 Item 5

  3. Parkinson’s disease (PD) Parkinson’s disease (PD) is a progressive, neurodegenerative, movement disorder that belongs to the group of conditions called motor system disorders. Parkinson’s disease most often occurs after the age of 50. It’s one of the most common nervous system disorders of the elderly. The disease is caused by the slow deterioration of the nerve cells in the brain, which create dopamine.

  4. What cause Parkinson's disease? Pathologically: Lesions of substantia nigra which produces the chemical dopamine. causes the progressive loss of dopamine brain cells (neurons) Genetically: caused by Autosomal recessive juvenile mutations in parkin {PARK2} gene.

  5. What causes Parkinson's disease? • DRUG INDUCED PARKINSON RESULTS FROM: • BLOCKAGE OF DOPAMINE RECEPTORS OR • DEPLETION OF DOPAMINE STORAGE, DECREASED DOPAMINERGIC ACTIVITY IN THE STRIATUM

  6. Definitions Ubiquitin Ubiquitin is a small (Eukaryotic) regulatory protein that has been found in almost all tissues. serves as a signal to move unneeded proteins into specialized cell structures known as proteasomes, where the proteins are degraded.

  7. Parkin Gene The PARK2 gene belongs to a family of genes called PARK Cytogenetic Location: 6q25.2-q27 Molecular Location : chromosome 6

  8. What is the normal function of the Parkin gene? It provides instructions for making a protein called parkin, which plays a role in the cell machinery that breaks down (degrades) unneeded proteins by tagging damaged and excess proteins with molecules called ubiquitin. Parkin may act as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.

  9. What is the normal function of the Parkin gene? Parkin may also regulate the supply and release of sacs called synaptic vesicles from nerve cells. Synaptic vesicles contain chemical messengers that transmit signals from one nerve cell to another. E.g. (dopamine) parkin belongs to a group of proteins called E3 ubiquitin ligase.

  10. What happen if Parkin gene mutated?

  11. Once parkin is mutated, it can no longer precisely control the action of dopamine, which supports the neural computation required for movement. parkin mutations prevent it from tightly controlling the production of monoamine oxidase (MAO), which catalyzes dopamine oxidation.

  12. What happen if Parkin gene mutated? when parkin is mutated, the regulation of (MAO) is expressed at a much higher level. a key reason for the death of dopamine neurons is oxidative stress due to the overproduction of MAO.

  13. 1817 – DESCRIBED BY JAMES PARKINSON SIX CARDINAL FEATURES • REST TREMOR • RIGIDITY • FLEXED POSTURE • BRADYKINESIA – HYPOKINESIA • LOSS OF POSTURAL REFLEXES • FREEZING PHENOMENON

  14. Signs

  15. Signs

  16. NON-MOTOR SYMPTOMS OF PARKINSON DISEASE

  17. BEHAVIORAL – DEPRESSION, ANXIETY, DECREASED MOTIVATION, PERSONALITY CHANGES. SENSORY – NON-SPECIFIC PAINS,, RESTLESS LEGS AND OTHER SLEEP PROBLEMS. AUTONOMIC – CONSTIPATION, BLADDER DYSFUNCTION, LOW BLOOD PRESSURE.

  18. DIAGNOSIS 1-The Neurologic Examination. performs an examination by: look to see if patient expression is animated. patient arms are observed for tremor, which is present either when they are at rest. Is there stiffness in patient limbs or neck? Can the patient rise from a chair easily? Dose the patient walk normally or with short steps, and the arms swing symmetrically? How quickly is patient able to regain balance?

  19. DIAGNOSIS 2- Diagnostic Tests. there is no diagnostic test that can confirm Parkinson's disease. Electroencephalograms (EEGs) record some aspects of brain electrical activity, but they are not effective in spotting Parkinson's. The MRI and CAT scans of the brain of people with Parkinson's disease appear normal. The brain of people with Parkinson's disease appears normal.

  20. Treatment One of the most effective and widely used treatments for the symptoms of PD is carbidopa-levodopa. Levodopa, also called L-dopa, is a drug that is converted into dopamine in the brain. 1-Dopamine agonists. Unlike levodopa, dopamine agonists don’t change into dopamine, but mimic the effect of dopamine in the brain. Theses drugs are not as effective as levodopa

  21. 2-MAO B inhibitors. Monoamine oxidase B (MAO B) 3-Amantadine. Amantadine is often prescribed to provide short-term relief of symptoms of mild, early-stage Parkinson’s disease. 4-SURGICAL PROCEDURES. Deep brain stimulation. In deep brain stimulation (DBS), surgeons implant electrodes into a specific part of the brain. The electrodes, which are connected to a generator implanted in the chest, send electrical pulses to the brain, which can help improve many of the symptoms of PD and reduce the need for levodopa.

  22. muhammadali clay

  23. Thank you for your attention. . . . . .!

  24. Refrences 1- http://ghr.nlm.nih.gov/condition/parkinson-disease 2- http://www.parkinsoninfo.org 3- http://www.genecards.org 4- Parkinson’s disease foundation http://www.pdf.org

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