الفهرس 
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Abstract
Parkinson’s disease, which is the second most common neurodegenerative disorder after Alzheimer’s disease. The etiology of PD remains unclear, both genetic susceptibility and environmental factors are considered to contributing factors. Worldwide studies have found positive associations of polymorphisms in the alpha-synuclein gene (SNCA) with the risk for PD. However, little is known about the influence of variants of SNCA in individual traits or phenotypical aspects of PD.
The aim of this study is to detect SNCA rs 356219 polymorphism in Parkinson’s disease in a sample of Egyptian population and to clarify any potential association between SNCA rs 356219 polymorphism and different characterstics , severity and clinical outcome in parkinsonian patients.
The study was conducted on 50 patients fulfilled the criteria for diagnosis of idiopathic parkinson’s disease based on British Brain Bank criteria, and 50 healthy controls. selected PD patients were submitted to assessment of cognitive function using Montreal Cognitive scale (MOCA) and minimental state examination, assessment of motor function using Unified Parkinson’s disease Rating Scale (UPDRS), SNCA rs356219 gene polymorphism is detected by real time PCR for all the included patients and controls.
The results of our study were summarized in the following:
• Pesticide’s exposure, regular coffee intake didn’t show to be risk factor for PD in our study, as there was no significant difference between patients and controls regarding these factors.
• Smoking, physical activity and cognitive exercise didn’t show to be protective factor in our study, as there was no significant difference between patients and controls.
• G allele was more common in early onset Parkinson’s disease (EOPD) than controls with certain trend toward significance (P value 0.078).
• There was no significant difference between patients and controls regarding SNCA rs 356219 variants (AA, AG & GG).
• No specific variant of SNCA rs356219 resembles risk nor protective factor for PD in our study.
• G allele of SNCA rs 356219 was more frequent in Parkinson’s disease patients than A allele but with no significant difference .
• There was no significant difference between patients with negative family history of PD and controls regarding SNCA rs 356219 variants or alleles.
• There was no significant difference between patients with early onset PD and controls regarding SNCA rs 356219 variants.
• There was no significant difference between patients with early onset PD and controls regarding SNCA rs 356219 alleles.
• There was significant difference between GG genotype and non GG genotypes (AA+AG) regarding motor drug response 39.06±19.48 vs. 26.46±20.58 (GG vs. AA+AG)
• There was significant difference between SNCA rs 356219 alleles regarding depression 35.6% of patients carrying A allele were depressed while 17.1% of patients carrying G allele were depressed.
• There was no significant difference between SNCA rs 356219 variants nor alleles regarding dominant motor symptom.
• There was no significant difference between SNCA rs 356219 variants nor alleles regarding UPDRS.
• There was no significant difference between SNCA rs 356219 variants nor alleles regarding non motor symptoms.
• There was no significant difference between SNCA rs 356219 variants nor alleles regarding cognitive affection.
CONCLUSION:
• G allele was more common in early onset Parkinson’s disease (EOPD) than controls with certain trend toward significance
• No specific SNCA rs 356219 variant is considered risk for PD patients in a sample of Egyptian population.
• Motor L-dopa response of patients carrying GG genotype was higher than patients carrying AA+AG genotypes with significant difference.
• Depression was higher in patients carrying A allele than in patients carrying G allele with significant difference.