الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
There is growing interest in PD researches as one of neurodegenartive diseases which is caused by degeneration in the dopaminergic neuron in the basal ganglia. It is purely a clinical diagnosis where motor and non motor symptoms represent a cornerstone in its diagnosis.
Motor symptoms are in the form of bradykinesia, tremors, rigidity and postural instability. Non motor symptoms are variable, in the form of (neuropsychiatric symptoms, sleep disorder, autonomic manifestaion, pain and gastrointestinal symptoms). Non-motor symptoms usually affect quality of life, psychosocial burden and are considered as determinants of PD disease course and outcome.
There are different biochemical markers which are used as predictors of PD either in early diagnosis of the disease or in prediction of its course.
Many genes are involved in PD disease. SNCA is the first causative gene in PD and the subsequent understanding that genetic factors play a substantial role in PD development. In addition to other 11 genes and an additional 3 genetic loci have been associated with PD.
The aim of this work was to study the clinical motor and non motor charachteristics among PD patients in upper Egypt in addition to, the relationship between the clinical characteristics of PD patients and some biochemical markers as serum 25OHD, Serum uric acid, serum HCY,
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serum IGF-1, serum cholestrol, and SLC41A1(rs11240569) genetic polymorphism.
This study is a part of a multicenter prospective mini project of neurological disorders of suspected genetic basis including PD, Alzheimer disease, multiple sclerosis and febrile seizures.
The study included 2 groups: The first group included 48 consecutive patients who were diagnosed with PD according to diagnostic criteria of United Kingdom PD Brain Bank . The second group: 50 age and sex cross matched healthy individuals with no past medical history of neurologic diseases or other medical diseases were included as the control group. The following patients were excluded from the study. Patients with history of repeated strokes with stepwise progression of parkinsonian features, Patients with history of repeated head injury, Patients with History of definite encephalitis, patients with oculogyric crises, patients on neuroleptic treatment at onset of symptoms , patients with sustained remission, patients strictly with unilateral feature after 3 years, patients with Supranuclear gaze palsy, patients with cerebellar signs patients with early severe autonomic involvement, patients with early severe dementia with disturbance of memory, language and praxia, patients with Babiniski sign, or patients with MPTP exposure, patients with poor response to large doses of levodopa in absence of malabsorbtion.
The study protocol was approved by the Ethics committee of Sohag Faculty of Medicine. Written informed consent was obtained from all participants.
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All patients were subjected to the following: Complete history taking and clinical examination (both general and neurological);Motor and functional performance was assessed using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), H&Y Scale, evaluation of cognitive functions using Arabic form of Mini-mental state examination (MMSE) and the Arabic version of the Wechsler Adult Intelligence Scale–Revised (WAIS–R).
Serum levels of 25OHD, IGF-1, cholesterol, HCY, UA were measured for patients and control groups. Genetic testing for SLC41A1 (rs11240569) genotyping using polymerase chain reaction (PCR) was done for patients and control groups.
We found that in Upper Egypt, the clinical characteristics of PD have important differences and similarities in terms of presentations at onset and disease progression as compared to other world studies.
All PD patients are suffering from one or more domains of non motor symptoms and this increase the burden of motor symptomatology, This will push us to pay more attention to non motor symptoms and treatment of those symptoms help in improving of motor symptoms. In this study, constipation in the most frequent non motor symptom.
The present study revealed that the disease duration is a predictor for disease severity. In addition to illiteracy which increase morbidity of the disease.
We found that PD severity and disease duration were strong predictors for cognitive impairment in PD patients using MMSE. In addition to strong correlation between cognitive impairment and motor and non motor symptoms progression.
In the present study, serum vitamin D level in PD patients was significantly lower than control group. So, vitamin D deficiency is a modifiable risk factor for PD. But this study did not show relation between vitamin D deficiency and severity of the disease.
The results show significant reduction in serum uric acid, cholesterol and IGF-1 level in PD patients in comparison to control group. Furthermore, there was significant elevation of HCY in PD patients in comparison to control group. Our results are likely to contribute to an improved understanding of the role of these biochemicals in PD and may aid the development of new neuroprotective and neurorestorative therapeutic strategies.
The current study emphasized the difficulty of predicting disease severity as regard motor and non motor symptoms progression according to biochemical variables and genetic factors.
Genetic testing of the present study showed that rs11240569 polymorphism of SLC41A1 gene has no significant differences in distributions of alleles and genotypes between cases and control group and had no effect on disease severity or clinical characteristics.
Conclusion
This study highlights the importance of focusing research on identifying different biochemical markers capable of characterizing the course and severity of PD. Most robust predictor of PD severity is disease duration. In addition to illiteracy and Low serum 25OHD level are considered a risk factor for PD in Upper Egypt. PD patients had lower serum concentrations of cholesterol, Uric acid and IGF-1in addition to higher level of HCY in comparison to control group. rs11240569 polymorphism of SLC41A1 gene has no significant differences in distributions of alleles and genotypes between cases and control group and had no effect on disease severity or clinical characteristics
Recommendations
-Rising of awareness about PD is highly important especially in our community to improve the diagnosis of disease and avoid higher physical disability and economic burden.
-Further genetic studies in our population is highly needed to evaluate variable genes contributing to PD taking in consideration population differences in gene expression.
-Study limitations included small number of the patients and high cost of biochemical and genetic testing. In addition to, small number of the patients with advanced disease severity and high illiteracy average.