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Mutations in the α-synuclein gene are a rare cause of Parkinson's disease. We investigated, by single-pulse TMS, the cortical excitability profile of nine α-synuclein patients in comparison with 24 idiopathic PD patients, subdivided into "akinetic" (n=17) and "tremor-dominant" (n=7) subgroups. The comparative assessment of rest motor threshold, active MEP and Silent Period Input/Output curves indicated that the cortical excitability of α-Synuclein patients is similar to patients with the "akinetic" form of PD. Both groups of patients exhibited differences in excitatory and inhibitory brain circuits from "tremor-dominant" patients indicating that varying clinical phenotypes are associated with differential profiles of corticospinal excitability., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

Parkinson's disease is a neurodegenerative disease, with a constantly increasing prevalence and a high global financial impact arising from direct and indirect costs. Large-scale, observational studies provide data that support the better comprehension of disease aspects, constitute a baseline reference for future studies and assist comparisons among different patient populations, allowing the recognition of distinctive characteristics and special needs. The present study is the first to depict the clinical characteristics and their interplay in a large sample of Parkinson's disease (PD) patients in Greece. Nine hundred eighty six consecutive PD outpatients were recruited from 17 centers around Greece in the time period from 8/2007 to 7/2009 and were examined and interviewed by movement disorders experts. Multiple clinical characteristics were recorded including age at diagnosis, disease severity, patients' self classification of PD symptoms and their relevance to physician's global clinical impression, smoking, alcohol consumption, presence of family history for PD, dementia, depression, hypertension, cancer and other comorbidities. Associations of high clinical significance were found between certain clinical characteristics., (Copyright © 2014 Elsevier B.V. All rights reserved.)

To determine whether polymorphisms in the microtubule-associated protein tau (MAPT) and/or glycogen synthase kinase-3β (GSK3β) genes underpin susceptibility to Parkinson's disease (PD), we conducted a case-control association study in a Greek cohort of 196 PD cases and 163 healthy controls. In our study, the MAPT H1 haplotype was found to be significantly associated with PD, no association was detected between the intronic rs6438552 (-157 T/C) GSK3β polymorphism and PD, whereas the C/C genotype of the promoter rs334558 (-50 T/C) GSK3β polymorphism was found to exert a protective role. The C/C genotype of the rs334558 GSK3β polymorphism was also found to have an additional protective role in our MAPT H1/H1 PD subgroup. Haplotype analysis revealed that, the T-T haplotype of both GSK3β polymorphisms was over-represented in PD patients compared to controls, and this association was independent of MAPT H1 haplotype., (Copyright © 2009 Elsevier Inc. All rights reserved.)

Background: Sleep-disordered breathing (SDB) and especially obstructive sleep apnea (OSA) are associated with daytime sleepiness and an increased risk for motor vehicle crashes. Previous studies have assessed the prevalence of OSA among professional drivers, but no study so far has focused on railway drivers. The aim of this study was to assess the prevalence of SDB among Greek railway drivers, and correlate it with daytime sleepiness, quality of life, and symptoms., Methods: The following three different questionnaires were anonymously answered by 226 train drivers: a general questionnaire on their demographics and sleep habits; the Greek version of the Epworth sleepiness scale (ESS); and the Medical Outcomes Study 36-item short form (SF-36). Of the 226 drivers, 50 underwent a sleep study, a physical examination, and an assessment of their respiratory function., Results: Participants were all men, had a mean (+/-SD) age of 46.9+/-3.9 years, were overweight (mean body mass index [BMI], 28.7+/-3.7 kg/m2), and were smokers (59.7%). Snoring was reported by 69.9% of them, and apneas by 11.5%. The mean ESS score was 5.4+/-3.2. SF-36 scores were similar to those of the Greek population. The mean apnea-hypopnea index (AHI) was 11+/-14 events per hour, and the mean pulse oximetric saturation was 93.2+/-2.5%. According to AHI severity, they were divided into the following three groups: group 1, normal breathing function in sleep (n=19; AHI, <5 events per hour); group 2, mild OSA (n=20; AHI, 5.1 to 15 events per hour); group 3, moderate/severe OSA (n=11; AHI, >15 events per hour). The three groups differed in terms of BMI, and neck, waist, and hip circumferences. No difference was detected, though, in ESS and SF-36 scores., Conclusion: The majority of the Greek railway drivers are overweight and smokers. The most common reported symptom in the questionnaires is snoring, without significant daytime impairment, while sleep studies show a potentially higher prevalence of OSA., Trial Registration: Democritus University of Thrace Identifier: 2979/5-2003., Trial Registration: Union of the Greek Railway Drivers Identifier: 536/10-2003.