scholarly journals Study of cognitive impairment and genetic polymorphism of SLC41A1 (rs11240569 allele) in Parkinson’s disease in Upper Egypt: case-control study

Author(s):  
Hamdy N. El-Tallawy ◽  
Tahia H. Saleem ◽  
Wafaa M. Farghaly ◽  
Heba Mohamed Saad Eldien ◽  
Ashraf Khodaery ◽  
...  

Abstract Background Parkinson’s disease is one of the neurodegenerative disorders that is caused by genetic and environmental factors or interaction between them. Solute carrier family 41 member 1 within the PARK16 locus has been reported to be associated with Parkinson’s disease. Cognitive impairment is one of the non-motor symptoms that is considered a challenge in Parkinson’s disease patients. This study aimed to investigate the association of rs11240569 polymorphism; a synonymous coding variant in SLC41A1 in Parkinson’s disease patients in addition to the assessment of cognitive impairment in those patients. Results In a case -control study, rs11240569 single nucleotide polymorphisms in SLC41A1, genes were genotyped in 48 Parkinson’s disease patients and 48 controls. Motor and non-motor performance in Parkinson's disease patients were assessed by using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). The genotype and allele frequencies were compared between the two groups and revealed no significant differences between case and control groups for rs11240569 in SLC41A1 gene with P value .523 and .54, respectively. Cognition was evaluated and showed the mean ± standard deviation (SD) of WAIS score of PD patients 80.4 ± 9.13 and the range was from 61 to 105, in addition to MMSE that showed mean ± SD 21.96 ± 3.8. Conclusion 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, in addition to cognitive impairment that is present in a large proportion of PD patients and in addition to the strong correlation between cognitive impairment and motor and non-motor symptoms progression.

Author(s):  
Ana María Jiménez-Cebrián ◽  
Ricardo Becerro-de-Bengoa-Vallejo ◽  
Marta Elena Losa-Iglesias ◽  
Carmen de Labra ◽  
César Calvo-Lobo ◽  
...  

Background: Kinesiophobia can be an obstacle to physical and motor activity in patients with Parkinson’s disease (PD). PD affects patients’ independence in carrying out daily activities. It also impacts a patient’s biopsychosocial well-being. The objective of this study was to analyze the levels and scores of kinesiophobia in PD patients and compare them with healthy volunteers. Methods: We deployed a case-control study and recruited 124 subjects (mean age 69.18 ± 9.12). PD patients were recruited from a center of excellence for Parkinson’s disease (cases n = 62). Control subjects were recruited from the same hospital (control n = 62). Kinesiophobia total scores and categories were self-reported using the Spanish version of the Tampa Scale of Kinesiophobia (TSK-11). Results: Differences between cases and control groups were analyzed using the Mann–Whitney U test. Statistically significant differences (p < 0.05) were shown between groups when comparing kinesiophobia categories (or levels) and total scores, revealing higher kinesiophobia symptoms and levels in PD patients. All of the PD patients reported some degree of kinesiophobia (TSK-11 ≥ 18), while the majority of PD patients (77.3%) had kinesiophobia scores rated as moderate to severe (TSK-11 ≥ 25). On the other hand, ~45.1% of controls reported no or slight kinesiophobia and 53.2% reported moderate kinesiophobia. Conclusions: Total kinesiophobia scores were significantly higher in PD patients compared with healthy controls, with moderate to severe kinesiophobia levels prevailing in PD patients. Therefore, individuals living with PD should be evaluated and controlled in order to detect initial kinesiophobia symptoms.


2015 ◽  
Vol 31 (1) ◽  
pp. 9-14
Author(s):  
Md Enayetul Islam ◽  
Aminur Rahman ◽  
Farhana Salam ◽  
Takib Uddin Ahmed ◽  
Uttam Kumar Saha ◽  
...  

Aim: Recent studies have provided evidence that uric acid (UA) is supposed to play a neuro-protective role in Parkinson’s disease (PD). Uric acid is a natural antioxidant that may reduce oxidative stress, a mechanism thought to play a role in the pathogenesis of PD. This study aimed to evaluate whether the serum UA level was associated with PD in a relatively small population of Bangladeshi patients. Materials and methods: An observational prospective case control Study was conducted in Neurology department of Sir Salimullah Medical College & Mitford Hospital including both the male and female wards during July 2012 to December 2013. Serum uric acid were determined from 40 PD patients and compared with 70 age and sex matched control; following the uric acid colorimetric method, the serum creatinine (Scr) levels were also measured to reduce the bias caused by possible differences in renal excretion function. Data were analyzed with software SPSS 16 and statistical descriptive methods (mean percentage, SD) and t-test. Result: In this study, 22 men (55%) and 18 women (45%) with PD were evaluated. The mean serum uric acid in patients was 3.7±0.97 and in the control group was 5.32 ±0.44. This difference was statistically significant.(p=0.001) Also, the mean serum uric acid in both men (3.48±0.98) and women (4.1±1.17) patients group was statistically lower than both men (5.39±0.46) and women (5.17±0.35) in control group.(p=0.001). Conclusion: This present study showed a positive association between low serum UA and PD . Bangladesh Journal of Neuroscience 2015; Vol. 31 (1): 9-14


2019 ◽  
Vol 10 ◽  
Author(s):  
Alma C. Salas-Leal ◽  
Ada Sandoval-Carrillo ◽  
Elizabeth Romero-Gutiérrez ◽  
Francisco X. Castellanos-Juárez ◽  
Edna M. Méndez-Hernández ◽  
...  

2016 ◽  
Vol 32 (2) ◽  
pp. 68-73
Author(s):  
Md Enayetul Islam ◽  
Aminur Rahman ◽  
Farhana Salam ◽  
Takib Uddin Ahmed ◽  
Uttam Kumar Saha ◽  
...  

Background: Recent studies have provided evidence that uric acid (UA) is suspected to play a neuro-protective role in Parkinson’s disease (PD). Uric acid is a natural antioxidant that may reduce oxidative stress, a mechanism thought to play a role in the pathogenesis of PD. This study aimed to evaluate whether the serum UA level was associated with PD in a relatively small population of Bangladeshi patients. Materials and methods: An observational prospective case control Study was conducted in Neurology of Sir Salimullah Medical College & Mitford Hospital including both the male and female wards during July 2012 to December 2013. Serum uric acid were determined from 40 PD patients and compared with 70 age and sex matched control; following the uric acid colorimetric method, the serum creatinine (Scr) levels were also measured to reduce the bias caused by possible differences in renal excretion function. Data were analyzed with software SPSS 16 and statistical descriptive methods (mean percentage, SD) and t-test. Result: In this study, 22 men (55%) and 18 women (45%) with PD were evaluated. The mean serum uric acid in patients was 3.7±0.97 and in the control group was 5.32±0.44. This difference was statistically significant (p=0.001). Also, the mean serum uric acid in both men (3.48±0.98) and women (4.1±1.17) in patients group was statistically lower than both men (5.39±0.46) and women (5.17±0.35) in control group.(p=0.001). Conclusion: This present study showed a positive association between low serum UA and PD Bangladesh Journal of Neuroscience 2016; Vol. 32 (2): 68-73


2020 ◽  
Vol 79 ◽  
pp. e38
Author(s):  
C.A. Soto-Rincón ◽  
S.A. Castillo Torres ◽  
D.G. Marítnez-Roque ◽  
J. Duarte-Bravo ◽  
S. España-Pérez ◽  
...  

2021 ◽  
pp. 1-11
Author(s):  
Valentina Leta ◽  
Daniele Urso ◽  
Lucia Batzu ◽  
Daniel Weintraub ◽  
Nataliya Titova ◽  
...  

Background: Constipation is regarded as one of the prodromal features of Parkinson’s disease (PD) and there is emerging evidence linking gastrointestinal dysfunction and cognitive impairment (CI) in PD. Objective: We explored whether constipation is associated with development of CI in two independent cohorts of de novo PD patients (n = 196 from the Non-motor International Longitudinal Study [NILS] and n = 423 from the Parkinson’s Progression Markers Initiative [PPMI] study). Methods: Constipation was clinically defined using the Non-Motor Symptoms Scale (NMSS) item-21 [NILS] and Scales for Outcomes in PD-Autonomic (SCOPA-AUT) item-5 [PPMI]. We assessed baseline group differences (PD with or without constipation) in CI, global non-motor symptoms burden, motor dysfunction, and striatal dopaminergic denervation. Kaplan-Meier method estimated group differences in cumulative proportion of patients with incident CI over three years. In PPMI, we subsequently performed univariate and multivariate Cox survival analyses to evaluate whether constipation predicts incident mild cognitive impairment or dementia over a 6-year period, including constipation and other known predictors of CI as covariates. Results: Patients with constipation had greater motor and global non-motor burden in both cohorts at baseline (p <  0.05). Kaplan-Meier plots showed faster conversion to CI in patients with constipation in both cohorts (p <  0.05). In PPMI, 37 subjects developed dementia during a mean follow-up of 4.9 years, and constipation was an independent predictor of dementia onset (hazard ratio = 2.311; p = 0.02). Conclusion: Constipation in de novo PD patients is associated with development of cognitive decline and may serve as a clinical biomarker for identification of patients at risk for cognitive impairment.


2010 ◽  
Vol 25 (15) ◽  
pp. 2587-2594 ◽  
Author(s):  
Michael Y. Shino ◽  
Valerie McGuire ◽  
Stephen K. Van Den Eeden ◽  
Caroline M. Tanner ◽  
Rita Popat ◽  
...  

2004 ◽  
Vol 19 (7) ◽  
pp. 807-811 ◽  
Author(s):  
Marco D'Amelio ◽  
Paolo Ragonese ◽  
Letterio Morgante ◽  
Antonio Epifanio ◽  
Graziella Callari ◽  
...  

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