Dataset Information

Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.

ABSTRACT: The etiology of Parkinson's disease (PD) is still unclear, but mutations in PRKN have provided some biological insights. The role of PRKN mutations and other genetic variation in determining the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in PD and controls in the Polish population and to try to correlate between the presence of genetic variants and clinical features. We screened for PRKN mutations in 90 PD patients and 113 controls and evaluated clinical features in these patients. We showed that in the Polish population 4% of PD patients had PRKN mutations (single or with additional polymorphism) while single heterozygous polymorphisms (S167N, E310D, D394N) of PRKN were present in 21% of sporadic PD. Moreover, 5% PD patients had more than one PRKN change (polymorphisms and mutations). Detected PRKN variants moderately correlated with PD course and response to L-dopa. It also showed that other PARK genes (SNCA, HTRA2, SPR) mutations probably may additionally influence PD risk and clinical features. PRKN variants are relatively common in our Polish series of patients with PD. Analysis of the PRKN gene may be useful in determining clinical phenotype, and helping with diagnostic and prognostic procedures in the future.

SUBMITTER: Oczkowska A

PROVIDER: S-EPMC4765516 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature

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Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.

Oczkowska Anna A Florczak-Wyspianska Jolanta J Permoda-Osip Agnieszka A Owecki Michal M Lianeri Margarita M Kozubski Wojciech W Dorszewska Jolanta J

Current genomics 20150801 4

The etiology of Parkinson's disease (PD) is still unclear, but mutations in PRKN have provided some biological insights. The role of PRKN mutations and other genetic variation in determining the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in PD and controls in the Polish population and to try to correlate between the presence of genetic variants and clinical features. We screened for PRKN mutations in 90 PD patients and 113 controls and evaluate ...[more]

PMID: 27006626

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Project description:BackgroundLower urinary tract (LUT) dysfunction is very common in Parkinson's disease (PD) patients. However, the number of studies conducted on LUT dysfunction and its related factors in Chinese PD patients is very limited, and there is no international consensus concerning the results.MethodsThis cross-sectional study enrolled 100 Chinese PD patients. The patients were classified based on their overactive bladder symptom score (OABSS) and then assigned to either a PD with overactive bladder (PD-OAB) group or a PD with no overactive bladder (PD-NOAB) group. A binary logistic regression analysis was performed to identify the accompanying factors for overactive bladder (OAB). Next, correlations between the OABSS and patient sex, age, age of onset, disease duration, MDS-UPDRS-III, H-Y stage, PD subtype, treatment, education, and nonmotor symptoms were analyzed to identify factors correlated with LUT dysfunction.ResultsEighty nine (89%) of the PD patients suffered from LUT dysfunction, and OAB was diagnosed in 45 (45%) of those PD patients. The most common lower urinary tract (LUT) symptom in the PD patients was nighttime frequency (86%), followed by urgency (50%), urge incontinence (34%), and daytime frequency (17%). Patients in the PD-OAB group had an older age and age of onset, were at a more advanced Hoehn-Yahr stage, and had more severe motor symptoms and nonmotor symptoms, including worse cognition, and a greater incidence of REM sleep behavior disorder (RBD). A binary logistic regression analysis showed that a lower Frontal Assessment Battery (FAB) score, higher H-Y stage, and RBD accompanied with a higher prevalence of OAB in PD patients. A multiple linear regression analysis showed that the OABSS was significantly influenced by the FAB score, H-Y stage, RBD, and age.ConclusionsThe FAB score, H-Y stage, and RBD are accompanying factors for OAB. A higher OABSS in PD patients was related to a lower FAB score for frontal lobe executive dysfunction, a higher H-Y stage for severity of motor disorders, RBD, and an older age.

Project description:Background: Parkinson's disease (PD) is one of the most common neurodegenerative diseases. Variants in the LRRK2 gene have been shown to be associated with PD. However, the clinical characteristics of LRRK2-related PD are heterogeneous. In our study, we performed a comprehensive pooled analysis of the association between specific LRRK2 variants and clinical features of PD. Methods: Articles from the Medline, Embase, and Cochrane databases were included in the meta-analysis. Strict inclusion criteria were applied, and detailed information was extracted from the final original articles included. Revman 5.3 software was used for publication biases and pooled and sensitivity analyses. Results: In all, 66 studies having the clinical manifestations of PD patients with G2019S, G2385R, R1628P, and R1441G were included for the final analysis. The prominent clinical features of LRRK2-G2019S-related PD patients were female sex, higher rates of early-onset PD (EOPD), and family history (OR: 0.77 [male], 1.37, 2.62; p < 0.00001, 0.02, < 0.00001). PD patients with G2019S were more likely to have high scores of Schwab & England (MD: 1.49; p < 0.00001), low GDS scores, high UPSIT scores (MD: 0.43, 4.70; p = 0.01, < 0.00001), and good response to L-dopa (OR: 2.33; p < 0.0001). Further, G2019S carriers had higher LEDD (MD: 115.20; p < 0.00001) and were more likely to develop motor complications, such as dyskinesia and motor fluctuations (OR: 2.18, 2.02; p < 0.00001, 0.04) than non-carriers. G2385R carriers were more likely to have family history (OR: 2.10; p = 0.007) than non-G2385R carriers and lower H-Y and higher MMSE scores (MD: -0.13, 1.02; p = 0.02, 0.0007). G2385R carriers had higher LEDD and tended to develop motor complications, such as motor fluctuations (MD: 53.22, OR: 3.17; p = 0.01, < 0.00001) than non-carriers. Other clinical presentations did not feature G2019S or G2385R. We observed no distinct clinical features for R1628P or R1441G. Our subgroup analyses in different ethnic group for specific variant also presented with relevant clinical characteristics of PD patients. Conclusions: Clinical heterogeneity was observed among LRRK2-associated PD in different variants in total and in different ethnic groups, especially for G2019S and G2385R.

Dataset Information

Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.

Publications

Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.

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