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Objective: A total of 48% of patients with Parkinson's disease (PD) present symptoms of gastrointestinal dysfunction, particularly constipation. Furthermore, gastrointestinal tract (GIT)-related non-motor symptoms (NMSs) appear at all stages of PD, can be prodromal by many years and have a relevant impact on the quality of life. There is a lack of GIT-focused validated tools specific to PD to assess their occurrence, progress, and response to treatment. The aim of this study was to develop and evaluate a novel, disease- and symptom-specific, self-completed questionnaire, titled Gut Dysmotility Questionnaire (GDQ), for screening and monitoring gastrointestinal dysmotility of the lower GIT in patients with PD. Methods: In phase 1, a systematic literature review and multidisciplinary expert discussions were conducted. In phase 2, cognitive pretest studies comprising standard pretests, interviews, and evaluation questionnaires were performed in patients with PD (n = 21), age- and sex-matched healthy controls (HC) (n = 30), and neurologists (n = 11). Incorporating these results, a second round of cognitive pretests was performed investigating further patients with PD (n = 10), age- and sex-matched HC (n = 10), and neurologists (n = 5). The questionnaire was adapted resulting in the final GDQ, which underwent cross-cultural adaptation to the English language. Results: We report significantly higher GDQ total scores and higher scores in five out of eight domains indicating a higher prevalence of gastrointestinal dysmotility in patients with PD than in HC (p<0.05). Cognitive pretesting improved the preliminary GDQ so that the final GDQ was rated as relevant (100/100%), comprehensive (100/90%), easy to understand concerning questions and answer options (100/90%), and of appropriate length (80/100%) by neurologists and patients with PD, respectively. The GDQ demonstrated excellent internal consistency (Cronbach's alpha value of 0.94). Evidence for good construct validity is given by moderate to high correlations of the GDQ total score and its domains by intercorrelations (rs = 0.67-0.91; p < 0.001) and with validated general NMS measures as well as with specific items that assess gastrointestinal symptoms. Interpretation: The GDQ is a novel, easy, and quick 18-item self-assessment questionnaire to screen for and monitor gastrointestinal dysmotility with a focus on constipation in patients with PD. It has shown high acceptance and efficacy as well as good construct validity in cognitive pretests. [ABSTRACT FROM AUTHOR]

Objective: Parkinson’s Disease (PD) is a progressive neurodegenerative disorder, manifesting with subtle early signs, which, often hinder timely and early diagnosis and treatment. The development of accessible, technology-based methods for longitudinal PD symptoms tracking in daily living, offers the potential for transforming disease assessment and accelerating diagnosis. Methods: A privacy-aware method for classifying patients and healthy controls (HC), on the grounds of speech impairment present in PD, is proposed. Voice features from running speech signals were extracted from passively-captured recordings over voice calls. Language-aware training of multiple- and single-instance learning classifiers was employed to fuse and predict on voice features and demographic data from a multilingual cohort of 498 subjects (392/106 self-reported HC/PD patients). Results: By means of leave-one-subject-out cross-validation, the best-performing models yielded 0.69/0.68/0.63/0.83 area under the Receiver Operating Characteristic curve (AUC) for the binary classification of PD patient vs. HC in sub-cohorts of English/Greek/German/Portuguese-speaking subjects, respectively. Out-of sample testing of the best performing models was conducted in an additional dataset, generated by 63 clinically-assessed subjects (24/39 HC/early PD patients). Testing has resulted in 0.84/0.93/0.83 AUC for the English/Greek/German-speaking sub-cohorts, respectively. Conclusions: The proposed approach outperforms other methods proposed for language-aware PD detection considering the ecological validity of the voice data. Significance: This paper introduces for the first time a high-frequency, privacy-aware and unobtrusive PD screening tool based on analysis of voice samples captured during routine phone calls. [ABSTRACT FROM AUTHOR]

People with spinal cord injuries (SCI), and particularly with high level lesions, can potentially lose the ability to effectively operate computers. The Multimedia Authoring and Management using your Eyes and Mind (MAMEM) project aims to design and produce a novel assistive device to support computer use by individuals with SCI and other disabilities. The solution harnesses eye tracking and brain waves, as measured by encephalography (EEG), to manipulate common computer functions. This paper describes the first step in the project, during which we defined clinically related requirements of the assistive device. These definitions were based on data from three sources: (1) a narrative review; (2) a focus group of SCI rehabilitation professionals; and (3) structured questionnaires administrated to potential computer users with SCI, addressing computer-use habits, barriers, and needs. We describe both the collection of data from each source and the clinically related requirements extracted. The novel three-source requirement assessment method is discussed, and the advantages and disadvantages of each data source are reported. In conclusion, we suggest that this approach makes it possible to organize, discuss, and prioritize the requirements, and to create a work program while planning the device. This increases our level of certainty that the efficacy and adequacy of the assistive device will be maximized, in terms of the clinical needs of users. [ABSTRACT FROM AUTHOR]

Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2 , and PDCD10 are the three loci to date linked to familial CCM development, although germline mutations have also been detected in patients affected by sporadic forms. In this context, the main challenge is to draw up criteria to formulate genotype-phenotype correlations. Clearly, genetic factors determining incomplete penetrance of CCM need to be identified. Here, we report two novel intronic variants probably affecting splicing. Molecular screening of CCM genes was performed on DNA purified by peripheral blood. Coding exons and intron-exon boundaries were sequenced by the Sanger method. The first was detected in a sporadic patient and involves KRIT1. The second affects CCM2 and it is harbored by a woman with familial CCM. Interestingly, molecular analysis extended to both healthy and ill relatives allowed to estimate, for the first time, a penetrance for CCM2 lower than 100%, as to date reported. Moreover, heterogeneity of clinical manifestations among those affected carrying the same genotype further confirms involvement of modifier factors in CCM development. [ABSTRACT FROM AUTHOR]

Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the youngest is symptomatic. Bioinformatics tools showed this novel variant causes a loss of function in Pdcd10 protein due to its localization in the eighth helix and, particularly, affects Leu141, a highly conserved amino acid. Roles of Pdcd10 in angiogenesis regulation and its association with early development of cerebral cavernous malformations were also considered. [ABSTRACT FROM AUTHOR]

Toll-like receptors (TLRs) are important mediators of inflammatory responses by recognition of many pathogen-related molecules and endogenous proteins related to immune activation. Accumulating data have recently pointed out the role of neuroinflammation in Parkinson's disease (PD) pathogenesis. In the present study, we investigated the potential role of the TLR9 -1237 T/C and TLR2 -194 to -174 del polymorphisms in PD. We studied a total of 333 individuals, 215 Greek patients with sporadic PD and 118 control subjects, using a polymerase chain reaction-restriction fragment length polymorphism method. No statistically significant differences were found between PD patients and control subjects for the TLR9 -1237 T/C genotypes or alleles. Regarding the TLR2 -196 to -174 del polymorphism, the del/del genotype and the del allele were overrepresented in the PD group compared to controls, however, this result did not reach statistical significance (P = 0.087). Further studies investigating the TLR-inflammatory background of PD are awaited to provide important insight into the aetiology of the disease. [ABSTRACT FROM AUTHOR]

Toll-like receptors (TLRs) are important mediators of inflammatory responses by recognition of many pathogen-related molecules and endogenous proteins related to immune activation. Accumulating data have recently pointed out the role of neuroinflammation in Parkinson's disease (PD) pathogenesis. In the present study, we investigated the potential role of the TLR9 − 1237 T/C and TLR2 − 194 to − 174 del polymorphisms in PD. We studied a total of 333 individuals, 215 Greek patients with sporadic PD and 118 control subjects, using a polymerase chain reaction-restriction fragment length polymorphism method. No statistically significant differences were found between PD patients and control subjects for the TLR9 − 1237 T/C genotypes or alleles. Regarding the TLR2 − 196 to − 174 del polymorphism, the del/del genotype and the del allele were overrepresented in the PD group compared to controls, however, this result did not reach statistical significance ( P = 0.087). Further studies investigating the TLR-inflammatory background of PD are awaited to provide important insight into the aetiology of the disease. [ABSTRACT FROM AUTHOR]

Parkinson's disease (PD) is a complex, heterogeneous neurodegenerative disorder, affecting approximately 1% of the population over 60 years of age. The molecular and cellular mechanisms underlying PD pathogenesis are still unknown. Clathrin-mediated endocytosis (CME) is a procedure closely related to the intracellular trafficking of multiple molecules in the cell, including proteins, lipids, and neurotransmitters. Recently, variations in the gene encoding the phosphatidylinositol binding clathrin assembly protein (PICALM) has been associated with Alzheimer's disease (AD), suggesting a possible role of CME in the pathogenesis of neurodegenerative diseases. In this study, we examined for the first time the potential role of the PICALM rs3851179 polymorphism in PD. We studied the PICALM rs3851179 polymorphism in 191 Greek patients with sporadic PD and 118 control subjects, using a PCR-RFLP method. Our results do not provide evidence that the PICALM rs3851179 polymorphism increase susceptibility of PD, in the Greek population. [ABSTRACT FROM AUTHOR]

The purpose of this study was the evaluation of pupil light reflex (PLR) in patients with Parkinson's disease (PD) by using a modern pupillometry system and the investigation of its potential relationship with dopamine transporter imaging (DaTSCAN), which is an objective method for the evaluation of presynaptic dopaminergic system. PLR was evaluated using pupillometry in 35 patients with PD without clinical evidence of autonomic dysfunction and 44 healthy matched controls. PLR was elicited using a fully automated pupillometry system and six parameters were measured. Dopamine transporter imaging was performed using radioactive ioflupane 123I-FP-CIT [[123I-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)-nortropane]]. A significant increase in latency and a significant decrease in amplitude, maximum constriction velocity, as well as maximum acceleration were observed in PD patients. There was no significant difference in initial radius and minimum radius values. Investigating the relationship between pupillometry parameters and 123I-FP-CIT binding values, we correlated values from the semiquantitative analysis of radioligand uptake with pupillometry parameters, but we found no significant correlation. This study demonstrates PLR impairment in patients with PD without overt autonomic dysfunction. This impairment does not seem to correspond to the reduction of radioligand binding in the striatum as the result of presynaptic dopaminergic dysfunction, suggesting a different deterioration rate of these systems. [ABSTRACT FROM AUTHOR]

Background: Recent studies revealed that aphasic speakers have difficulties with the production of the intransitive (unaccusative) variant of verbs entering transitivity alternations. A key point of the current interpretations of these difficulties concerns the movement operations taking place at surface syntax, namely, the A-movement operation (Bastiaanse & van Zonneveld, 2005; Bastiaanse, 2008; Thompson, 2003). Aim: The present study revisits the issue of processing verbs with alternating transitivity in non-fluent aphasia in Greek, a language with rich morphology and relatively free word order, which lacks A-movement. In addition, in Greek, unaccusative verbs appear with different voice morphology: One class of intransitive variants of alternating verbs bears active morphology, another one non-active morphology and a third one can surface with both. The presence of non-active voice has been argued to correspond to the presence of a voice projection in syntax of these variants, while the variants that bear active morphology are not associated with a voice projection at the level of syntax. This study investigates the ability of non-fluent aphasic speakers to produce and comprehend verbs entering transitivity alterations and explores the role of active vs. non-active morphology and word order in the performance of aphasic speakers. Methods & Procedures: We tested five non-fluent patients and fifteen control participants. We used two tasks supported by pictures: an elicited production task and a comprehension task. The experimental material consisted of fifteen transitive and fifteen unaccusative verbs (marked for active, and/or non-active voice morphology) in sentence contexts. Outcomes & Results: The results indicated that (i) the aphasic speakers performed better on the production and comprehension of transitives than of unaccusatives, (ii) they showed significantly lower performance on the comprehension of unaccusatives with active morphology than on unaccusatives with non-active morphology, and finally (iii) they produced transitive (S)VO structures instead of the unaccusative ones. Conclusion: We suggest, in agreement with other researchers (for example, Schwartz, Linebarger, Saffran, & Pate, 1987) that aphasic individuals overuse a mapping strategy that associates the theta roles of agent and theme with syntactic subject and object respectively, as they produce transitive (S)VO structures, to a large extent, instead of unaccusatives. In addition, as they had difficulties with unaccusative verbs marked for active voice, we suggest that they could not successfully interpret unaccusative verbs with active voice morphology as non-agentive structures. [ABSTRACT FROM AUTHOR]

We evaluated pupil light reflex (PLR) in patients with Parkinson's disease (PD) and normal controls by means of pupillometry and explored its possible relation to clinical characteristics in parkinsonian patients. PLR was evaluated using pupillometry in 66 patients with PD without clinical evidence of autonomic dysfunction and 44 healthy matched controls. PLR was elicited by single flash stimuli of 24.6 candelas/m2 intensity and 20 ms duration, and six parameters were studied after full recording of pupil's movement. A significant increase in latency (T1) and significant decrease in amplitude (R1-R2), maximum constriction velocity (Vmax), as well as maximum acceleration (ACmax) was found in parkinsonian patients. There was no significant difference in initial radius (R1) and minimum radius (R2) values. Of the parameters studied, ACmax emerged as a significant predictor for discrimination between PD patients and controls. There was no significant correlation between pupillometry parameters and clinical characteristic of patients (disease duration, stage, and the Unified Parkinson's Disease Rating motor scale). The study demonstrates PLR disorder in PD patients even without overt clinical autonomic dysfunction. Pupillometry appears to be a useful and noninvasive method for exploration of PLR alterations in PD and may prove to be useful for the early detection of subclinical autonomic nervous system dysfunction. [ABSTRACT FROM AUTHOR]

A translated version of the Mattis Dementia Rating Scale (DRS) into Greek ((DRS-GR) was applied to a sample of Greek population (N = 356) comprising normal middle-aged and elderly subjects (controls), as well as patients suffering from Parkinson's (PD) and Alzheimer's disease (AD) to test its reliability and validity. A well-known dementia screening instrument, the Mini Mental State Examination test (MMSE), and a nonverbal measure of abstract reasoning, the Raven Coloured Progressive Matrices, were employed as measures of DRS-GR concurrent validity. Reliability analysis was satisfactory with Cronbach's alpha reaching 0.82 and item to total correlations yielding high coefficients for most items. DRS-GR scores were influenced by age and education, but not by gender. Correlation between MMSE and the total DRS-GR score was significant in patients and normal controls, but correlation between DRS-GR and RCPM was significant in AD and nondemented PD only. Specificity and sensitivity for dementia screening, calculated on a Receiver Operating Characteristic curve, with a cut-off score the mean value minus two standard deviations, corrected for age and education, was 96% and 80%, respectively. Our preliminary findings show that DRS-GR is a reliable and well-adapted instrument for clinical application in the Greek population. [ABSTRACT FROM AUTHOR]

BACKGROUND: Chronic obstructive pulmonary disease (COPD) profoundly impacts patients' functional status, especially in the advanced stages, when long-term oxygen therapy (LTOT) is implemented. OBJECTIVE: To determine the health-related quality of life (HRQOL) in patients with COPD and using LTOT, and assess the relationship of socioeconomic characteristics and pulmonary function test results to HRQOL scores. METHODS: We studied a group of 85 patients with COPD and hypoxemia who were on LTOT, and a control group of 48 patients with stable COPD but without hypoxemia. All subjects were asked to rate their dyspnea on the Modified Medical Research Council dyspnea scale, and to take the Medical Outcomes Study Short Form (SF-36), the General Health Questionnaire (30 questions), and a questionnaire (which we developed for this study) to measure their independence in activities of daily living (ADL). We also conducted pulmonary function tests and arterial blood gas analyses, and recorded socioeconomic characteristics. RESULTS: The subjects' socioeconomic status was moderate to low. HRQOL was impaired in patients on LTOT, especially in the physical function domain, and most of the examined dimensions correlated with the severity of dyspnea and psychological status. There was a significant association between ADL score and SF-36 score in the vitality and physical domains, but there was no significant association between HRQOL score and spirometry or blood gas values. CONCLUSIONS: HRQOL in patients with COPD and on LTOT is low and is influenced by dyspnea, mental status, and incapacity, rather than by physiological variables. We recommend a multidimensional therapeutic approach that targets symptom-control and ADL support to improve the patient's overall HRQOL. [ABSTRACT FROM AUTHOR]

The article investigates the prevalence of sleep-disordered breathing (SDB) among railway drivers in Greece, and correlates it with daytime sleepiness, quality of life, and symptoms. Data suggests that most of the Greek railway drivers are overweight and smokers. The most frequently reported symptom in the questionnaires is snoring, without significant daytime impairment, while sleep studies reveal a potentially higher prevalence of OSA.

We compared the distribution of the Tau H1 haplotype and related subhaplotypes in a group of clinically diagnosed Parkinson's disease patients (n = 133) and in control individuals (n = 113) from northern Greece. We were able to detect a statistically significant overrepresentation of the H1H1 genotype in our patient group (OR for H1H1 vs. H1H2 and H2H2: 1.73; 95% CI: 1.03-2.90; P = 0.037). The H1 subhaplotype significantly associated with the disease in our population was different from the one previously reported for a Norwegian population, suggesting that the nature of the association of Tau with Parkinson's disease is influenced by ethnic variation. [ABSTRACT FROM AUTHOR]

Abstract: Subdural hematoma is a rare cause of secondary parkinsonism. We report a 65-year-old woman with reversible parkinsonism due to bilateral chronic subdural hematomas. Symmetrical parkinsonism evolved acutely 45 days after a trivial head injury. Mild pyramidal signs were also present on her left side. MRI revealed bilateral chronic subdural hematomas. The patient’s parkinsonism was completely abolished one month after successful neurosurgical evacuation of the hematomas. [Copyright &y& Elsevier]

Abstract: We describe a case with left hemiparkinsonism due to a parasagittal meningioma with surrounding edema compressing the right basal ganglia. The patient was successfully operated and his symptoms resolved completely. However 7 years later his hemiparkinsonism reappeared due to a relapse of the right parasagittal meningioma. This rare case points to the significance of neuroimaging in the evaluation of parkinsonism. [Copyright &y& Elsevier]

Abstract: Brain-derived neurotrophic factor (BDNF) enhances survival of dopaminergic neurons in the substantia nigra, whereas in patients with Parkinson’s disease (PD), the expression of BDNF mRNA is decreased, thus making BDNF a candidate gene for PD susceptibility. The association between BDNF Val66Met polymorphism and PD has been evaluated in several studies with controversial results. Thus, we determined the distribution of BDNF Val66Met polymorphism in 184 Greek patients with sporadic PD and 113 control participants using polymerase chain reaction–restriction fragment length polymorphism, and explored the association of the polymorphism with certain clinical parameters of the disease. Our results do not support a major role for the BDNF Val66Met polymorphism in PD in the Greek population. [Copyright &y& Elsevier]

Recently, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) have been identified as new causal Parkinson’s disease (PD) genes, with the VPS35 D620N and EIF4G1 R1205H mutations being identified in both autosomal dominant late-onset familial and sporadic PD patients. However, the frequencies of these two mutations among different ethnic groups vary. We studied the VPS35 D620N and EIF4G1 R1205H mutations in a total of 333 individuals, 202 Greek patients with sporadic PD and 131 control subjects, using a polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method. None of our studied individuals carried these two mutations. Our data support that the VPS35 D620N and EIF4G1 R1205H mutations are not a common cause of PD in the Greek population. [ABSTRACT FROM AUTHOR]

Highlights: [•] We investigated the association of the rs6812193 polymorphism with Parkinson's disease. [•] SCARB2 is implicated in the lysosomal pathway recently associated with PD pathogenesis. [•] The rs6812193 polymorphism doesn’t increase susceptibility to PD in the Greek population. [•] The role of this polymorphism should be further examined in different ethnic populations. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract: Mutations in β-glucocerebrosidase gene (GBA) have been implicated in Parkinson disease (PD). A Greek cohort of 172 PD patients and 132 control individuals were screened for GBA mutations by complete sequencing of the gene''s exons. Four mutations previously associated with Gaucher disease and/or Parkinson''s disease (L445P, D409H, E326K, H255Q) were detected, as well as five newly identified variants (R329H, L268L, S271G, T428K, V460L), providing for the first time data regarding the frequency of GBA mutations among PD patients and controls, in the Greek population. H255Q was the most common GBA mutation among Greek PD patients (4/172). V460L was only found in control individuals (2/132). Overall, GBA mutations were significantly overrepresented in a subgroup of early onset PD patients, compared to controls (P =0.019, OR=4.2; 95%CI=1.28–13.82), suggesting that GBA mutations may modify age of onset for PD. [Copyright &y& Elsevier]