scholarly journals Association between CSF1 and CSF1R Polymorphisms and Parkinson’s Disease in Taiwan

2019 ◽  
Vol 8 (10) ◽  
pp. 1529 ◽  
Author(s):  
Kuo-Hsuan Chang ◽  
Yih-Ru Wu ◽  
Yi-Chun Chen ◽  
Hsiu-Chuan Wu ◽  
Chiung-Mei Chen

Background: CSF1/CSF1R neuroinflammatory signaling is emerging as an important pathway involved in the pathogenesis of Parkinson’s disease (PD). However, the genetic associations between CSF1/CSF1R and PD have not yet been explored. Methods: We investigated the effects of two functional genetic variants, including CSF1 rs1058885 and CSF1R rs10079250 in a cohort including 502 Taiwanese patients with PD and 511 age- and gender-matched healthy controls. Results: The CSF1 rs1058885 TT genotype was less frequent in PD patients compared with control subjects (odds ratio (OR) = 0.63, 95% confidence interval (CI): 0.43–0.92, p = 0.015). The PD patients also had a lower frequency of the CSF1 rs1058885 T allele compared with the control subjects (OR = 0.80, 95% CI: 0.67–0.96, p = 0.014). No statistically significant differences in allelic and genotypic frequencies of CSF1R rs10079250 between the PD and control subjects were found, even after stratification by age at onset and gender. Conclusion: This study reports a genetic association between CSF1 and PD for the first time.

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Laura W. J. Baijens ◽  
Renée Speyer ◽  
Valéria Lima Passos ◽  
Walmari Pilz ◽  
Nel Roodenburg ◽  
...  

Objective. To determine and describe the pathophysiological aspects of oropharyngeal swallowing in patients with Parkinson's disease more accurately, a pilot study of qualitative as well as quantitative parameters of swallowing was performed using videofluoroscopy (VFS).Methods. Ten patients with a diagnosis of idiopathic Parkinson's disease having dysphagic complaints and ten healthy age- and gender-matched control subjects underwent a standardized videofluoroscopic swallowing protocol. Information on the swallowing function was derived from temporal, spatial, and descriptive visuoperceptual parameters. Intra- and interrater reliability was calculated.Results. No significant differences were found between Parkinson patients and healthy control subjects for the majority of the reliable variables.Conclusions. It was concluded that swallowing function seemed to be preserved in the early stages of Parkinson's disease. Furthermore, the reliability of many quantitative as well as qualitative swallowing parameters proved insufficient, raising questions about the interpretation of study outcomes in videofluoroscopy.


2012 ◽  
Vol 70 (11) ◽  
pp. 847-851 ◽  
Author(s):  
Luciana Ulhôa Guedes ◽  
Juliana Melo Rodrigues ◽  
Aline Andrioni Fernandes ◽  
Francisco E. Cardoso ◽  
Verônica Franco Parreira

OBJECTIVE: To investigate the maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) in patients with Parkinson's disease (PD) during the on and off periods of levodopa and to compare with healthy controls. METHODS: Twenty-six patients were analyzed with Hoehn and Yahr scores (2-3) and 26 age and gender matched-controls. Statistical analysis was performed with Student's t-test for paired and independent samples. RESULTS: MIP and MEP values in patients were significantly lower than the values obtained in controls both for off and on stages -excepted for MIP in women (p=0.28). For patients with PD, the studied parameters did not differ between stages on and off, with the exception of MEP in women (p=0.00). CONCLUSIONS: Patients with PD have respiratory pressure lower than controls, even in early stages of the disease, and dopamine replacement has little impact over these respiratory pressures. These findings suggest that respiratory changes in PD may be unrelated to dopaminergic dysfunction.


2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Ovidijus Laucius ◽  
Renata Balnytė ◽  
Kęstutis Petrikonis ◽  
Vaidas Matijošaitis ◽  
Neringa Jucevičiūtė ◽  
...  

Background. It is currently impossible to diagnose Parkinson’s disease (PD) in the premotor phase even though at the time of motor symptom onset the number of already degenerated dopaminergic substantia nigra neurons is considerable. Degeneration of the dorsal nucleus of the vagus nerve (VN) has been reported early in the disease course, and it could lead to impaired function of the VN, resulting in certain nonmotor symptoms of PD. Therefore, we raised a hypothesis that the loss of VN neurons could result in a smaller diameter of the VN among PD patients. Methods. 20 PD patients and 20 age- and gender-matched individuals without any neurodegenerative disease were enrolled in a pilot study. The diameters of the right and left VNs were measured using ultrasonography, their average was calculated, and the narrower VN diameter was noted separately. Results. No difference was found between the PD and control groups neither in the average VN diameter (mean 1.17; 95% confidence interval (CI) 1.10–1.24 vs. 1.13; 1.07–1.18, mm; p=0.353) nor in the narrower VN diameter (mean 1.11; 95% confidence interval (CI) 1.02–1.20 vs. 1.07; 1.02–1.13, mm; p=0.421). The narrower VN diameter and the average VN diameter were not able to distinguish between PD patients and controls (area under curve (AUC) = 0.588, 95% CI = 0.408–0.767, and p=0.344; and AUC = 0.578, 95% CI = 0.396–0.759, and p=0.402). Conclusions. To conclude, no differences were found in VN diameter between the PD and control groups. Therefore, our data do not support the hypothesis that PD could be associated with a smaller diameter of the VN.


2018 ◽  
Vol 89 (10) ◽  
pp. A47.2-A47
Author(s):  
Rees Richard ◽  
Hubbard Leon ◽  
Ben-Shlomo Yoav ◽  
Grosset Donald ◽  
Williams Nigel ◽  
...  

IntroductionImpuse Control Disorders (ICD) are a potentially devastating side-effect of dopaminergic therapy in Parkinson’s disease (PD). We explore the genetic factors associated with ICD in Tracking Parkinson’s/PRoBaND – a UK-wide cohort of early-stage PD.MethodsParticipants were diagnosed with PD within 3 years and had longitudinal assessment including the Questionnaire for ICD in Parkinson’s (QUIP) for up to 5 years. We defined cases as having any positive response to the QUIP (lax criteria) or 2 positive responses in any domain (strict criteria). We performed a candidate-gene analysis based on systematic review, followed by a genome-wide association study. We used age at onset, gender, and three significant principle components as covariates.ResultsAfter clinical and genetic quality control steps, we analysed 1602 participants. Prevalence was significantly affected by classification criteria (strict/lax): ICD – 26.8%/11.1%, IRB 29.3%/27.2%, any 31.7%/41.9%. Six SNPs in dopamine, glutamate and adreno- receptor genes achieved nominal significance (p<0.05) in the candidate study. We have identified several SNPs in the GWAS that approach genome wide significance (p<5 × 10–7).ConclusionsThis work is the first genome-wide study of genetic determinants of ICD. Our findings support the hypothesis of genetic determinants of ICD in Parkinson’s and further work will allow understanding of the biology of ICD.


2016 ◽  
Vol 6 (4) ◽  
pp. 761-770 ◽  
Author(s):  
Thomas G. Beach ◽  
Anne-Gaëlle Corbillé ◽  
Franck Letournel ◽  
Jeffrey H. Kordower ◽  
Thomas Kremer ◽  
...  

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