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The Egyptian Journal of Neurology, Psychiatry and Neurosurgery

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Open Access 01-12-2021 | Parkinson's Disease | Research

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

Authors: Hamdy N. El-Tallawy, Tahia H. Saleem, Wafaa M. Farghaly, Heba Mohamed Saad Eldien, Ashraf Khodaery, Sherif A. Sayed, Ahmed A. Helaly, Hassan Mohammed Elnady

Published in: The Egyptian Journal of Neurology, Psychiatry and Neurosurgery | Issue 1/2021

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.

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Title: Study of cognitive impairment and genetic polymorphism of SLC41A1 (rs11240569 allele) in Parkinson’s disease in Upper Egypt: case-control study
Authors: Hamdy N. El-Tallawy
Tahia H. Saleem
Wafaa M. Farghaly
Heba Mohamed Saad Eldien
Ashraf Khodaery
Sherif A. Sayed
Ahmed A. Helaly
Hassan Mohammed Elnady
Publication date: 01-12-2021
Publisher: Springer Berlin Heidelberg
Keywords: Parkinson's Disease
Dementia
Dementia
Movement Disorder
Published in: The Egyptian Journal of Neurology, Psychiatry and Neurosurgery / Issue 1/2021
Electronic ISSN: 1687-8329
DOI: https://doi.org/10.1186/s41983-021-00341-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Results

Conclusion

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