TLR9 -1237 T/C and TLR2 -194 to -174 del polymorphisms and the risk of Parkinson's disease in the Greek population: a pilot study.

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.

The Gut Dysmotility Questionnaire for Parkinson's disease: Insights into development and pretest studies.

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 (r s = 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.

Lack of association of the PICALM rs3851179 polymorphism with Parkinson's disease in the Greek population.

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.

Pupillometry and 123I-DaTSCAN imaging in Parkinson's disease: a comparison study.

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 (123)I-FP-CIT [(123)I-N-ω-fluoropropyl-2ß-carbomethoxy-3ß-(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 (123)I-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.

Parkinson's Disease Detection Based on Running Speech Data From Phone Calls.

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.

Novel Cell-Based Assay for Alpha-3 Nicotinic Receptor Antibodies Detects Antibodies Exclusively in Autoimmune Autonomic Ganglionopathy.

BACKGROUND AND OBJECTIVES: Autoantibodies against α3-subunit-containing nicotinic acetylcholine receptors (α3-nAChRs), usually measured by radioimmunoprecipitation assay (RIPA), are detected in patients with autoimmune autonomic ganglionopathy (AAG). However, low α3-nAChR antibody levels are frequently detected in other neurologic diseases with questionable significance. Our objective was to develop a method for the selective detection of the potentially pathogenic α3-nAChR antibodies, seemingly present only in patients with AAG. METHODS: The study involved sera from 55 patients from Greece, suspected for autonomic failure, and 13 patients from Italy diagnosed with autonomic failure, positive for α3-nAChR antibodies by RIPA. In addition, sera from 52 patients with Ca2+ channel or Hu antibodies and from 2,628 controls with various neuroimmune diseases were included. A sensitive live cell-based assay (CBA) with α3-nAChR-transfected cells was developed to detect antibodies against the cell-exposed α3-nAChR domain. RESULTS: Twenty-five patients were found α3-nAChR antibody positive by RIPA. Fifteen of 25 patients were also CBA positive. Of interest, all 15 CBA-positive patients had AAG, whereas all 10 CBA-negative patients had other neurologic diseases. RIPA antibody levels of the CBA-negative sera were low, although our CBA could detect dilutions of AAG sera corresponding to equally low RIPA antibody levels. No serum bound to control-transfected cells, and none of the 2,628 controls was α3-CBA positive. DISCUSSION: This study showed that in contrast to the established RIPA for α3-nAChR antibodies, which at low levels is of moderate disease specificity, our CBA seems AAG specific, while at least equally sensitive with the RIPA. This study provides Class II evidence that α3-nAChR CBA is a specific assay for AAG. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that an α3-nAChR cell-based assay is a more specific assay for AAG than the standard RIPA.

Pupil light reflex in Parkinson's disease: evaluation with pupillometry.

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/m(2) 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 (V(max)), as well as maximum acceleration (AC(max)) was found in parkinsonian patients. There was no significant difference in initial radius (R1) and minimum radius (R2) values. Of the parameters studied, AC(max) 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.

Performance of Greek demented and nondemented subjects on the Greek version of the Mattis Dementia Rating Scale. A validation study.

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.

Smartwatch-based Activity Analysis During Sleep for Early Parkinson's Disease Detection.

Parkinson's Disease (PD) is the second most common neurodegenerative disorder with the non-motor symptoms preceding the motor impairment that is needed for clinical diagnosis. In the current study, an angle-based analysis that processes activity data during sleep from a smartwatch for quantification of sleep quality, when applied on controls and PD patients, is proposed. Initially, changes in their arm angle due to activity are captured from the smartwatch triaxial accelerometry data and used for the estimation of the corresponding binary state (awake/sleep). Then, sleep metrics (i.e., sleep efficiency index, total sleep time, sleep fragmentation index, sleep onset latency, and wake after sleep onset) are computed and used for the discrimination between controls and PD patients. A process of validation of the proposed approach when compared with the PSG-based ground truth in an in-the-clinic setting, resulted in comparable state estimation. Moreover, data from 15 early PD patients and 11 healthy controls were used as a test set, including 1,376 valid sleep recordings in-the-wild setting. The univariate analysis of the extracted sleep metrics achieved up to 0.77 AUC in early PD patients vs. healthy controls classification and exhibited a statistically significant correlation (up to 0.46) with the clinical PD Sleep Scale 2 counterpart Items. The findings of the proposed method show the potentiality to capture non-motor behavior from users' nocturnal activity to detect PD in the early stage.

Screening of Parkinsonian subtle fine-motor impairment from touchscreen typing via deep learning.

Fine-motor impairment (FMI) is progressively expressed in early Parkinson's Disease (PD) patients and is now known to be evident in the immediate prodromal stage of the condition. The clinical techniques for detecting FMI may not be robust enough and here, we show that the subtle FMI of early PD patients can be effectively estimated from the analysis of natural smartphone touchscreen typing via deep learning networks, trained in stages of initialization and fine-tuning. In a validation dataset of 36,000 typing sessions from 39 subjects (17 healthy/22 PD patients with medically validated UPDRS Part III single-item scores), the proposed approach achieved values of area under the receiver operating characteristic curve (AUC) of 0.89 (95% confidence interval: 0.80-0.96) with sensitivity/specificity: 0.90/0.83. The derived estimations result in statistically significant ([Formula: see text]) correlation of 0.66/0.73/0.58 with the clinical standard UPDRS Part III items 22/23/31, respectively. Further validation analysis on 9 de novo PD patients vs. 17 healthy controls classification resulted in AUC of 0.97 (0.93-1.00) with 0.93/0.90. For 253 remote study participants, with self-reported health status providing 252.000 typing sessions via a touchscreen typing data acquisition mobile app (iPrognosis), the proposed approach predicted 0.79 AUC (0.66-0.91) with 0.76/0.71. Remote and unobtrusive screening of subtle FMI via natural smartphone usage, may assist in consolidating early and accurate diagnosis of PD.

Assistive HCI-Serious Games Co-design Insights: The Case Study of i-PROGNOSIS Personalized Game Suite for Parkinson's Disease.

Human-Computer Interaction (HCI) and games set a new domain in understanding people's motivations in gaming, behavioral implications of game play, game adaptation to player preferences and needs for increased engaging experiences in the context of HCI serious games (HCI-SGs). When the latter relate with people's health status, they can become a part of their daily life as assistive health status monitoring/enhancement systems. Co-designing HCI-SGs can be seen as a combination of art and science that involves a meticulous collaborative process. The design elements in assistive HCI-SGs for Parkinson's Disease (PD) patients, in particular, are explored in the present work. Within this context, the Game-Based Learning (GBL) design framework is adopted here and its main game-design parameters are explored for the Exergames, Dietarygames, Emotional games, Handwriting games, and Voice games design, drawn from the PD-related i-PROGNOSIS Personalized Game Suite (PGS) (www.i-prognosis.eu) holistic approach. Two main data sources were involved in the study. In particular, the first one includes qualitative data from semi-structured interviews, involving 10 PD patients and four clinicians in the co-creation process of the game design, whereas the second one relates with data from an online questionnaire addressed by 104 participants spanning the whole related spectrum, i.e., PD patients, physicians, software/game developers. Linear regression analysis was employed to identify an adapted GBL framework with the most significant game-design parameters, which efficiently predict the transferability of the PGS beneficial effect to real-life, addressing functional PD symptoms. The findings of this work can assist HCI-SG designers for designing PD-related HCI-SGs, as the most significant game-design factors were identified, in terms of adding value to the role of HCI-SGs in increasing PD patients' quality of life, optimizing the interaction with personalized HCI-SGs and, hence, fostering a collaborative human-computer symbiosis.

Health related quality of life in Greek patients with sleep apnea-hypopnea syndrome treated with continuous positive airway pressure.

Sleep apnea-hypopnea syndrome (SAHS) causes serious symptoms and may induce patients' quality of life impairment. The aim of this study was to assess health related quality of life (HRQOL) in Greek patients with various severity SAHS before and after CPAP implementation in comparison with conservative therapy and Greek population normative data. In 180 patients (152 males, 28 females) with SAHS (apnea-hypopnea index, AHI 56 +/- 25.4/h), daytime sleepiness was assessed with the Epworth sleepiness scale (ESS) and measurements of health status were performed using the short form-36 health survey (SF-36) questionnaire and the General Health Questionnaire (GHQ-30). One hundred and thirty five patients underwent CPAP treatment and 45 were assigned to a conservative therapy. After 3 months the measurements were repeated in 105 patients under CPAP treatment and in 15 patients from the conservative group. HRQOL in all patients was lower than Greek normative data before any treatment. In patients with CPAP therapy the ESS decreased (p<0.01) and a significant improvement was observed in SF-36 dimensions (p<0.01). The improvement was more obvious in patients with severe SAHS (p<0.05) than in patients with moderate disease severity. In the majority of patients (60.9%), GHQ-30 score was high and it was negatively related to some SF-36 dimensions and positively to ESS. In patients under conservative therapy, no significant changes were observed in any measure. HRQOL in patients with SAHS at the time of diagnosis was low and reached general population levels in patients treated with CPAP. The improvement was greater in those with severe syndrome.

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece.

Mutations in beta-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.

Reversible parkinsonism due to chronic bilateral subdural hematomas.

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.

Identification of clinically related requirements of a novel assistive device for people with a high spinal cord injury.

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.

Early Parkinson's Disease Detection via Touchscreen Typing Analysis using Convolutional Neural Networks.

Parkinson's Disease (PD) is the second most common neurodegenerative disorder worldwide, causing both motor and non-motor symptoms. In the early stages, symptoms are mild and patients may ignore their existence. As a result, they do not undergo any related clinical examination; hence delaying their PD diagnosis. In an effort to remedy such delay, analysis of data passively captured from user's interaction with consumer technologies has been recently explored towards remote screening of early PD motor signs. In the current study, a smartphone-based method analyzing subjects' finger interaction with the smartphone screen is developed for the quantification of fine-motor skills decline in early PD using Convolutional Neural Networks. Experimental results from the analysis of keystroke typing in-the-clinic data from 18 early PD patients and 15 healthy controls have shown a classification performance of 0.89 Area Under the Curve (AUC) with 0.79/0.79 sensitivity/specificity, respectively. Evaluation of the generalization ability of the proposed approach was made by its application on typing data arising from a separate self-reported cohort of 27 PD patients' and 84 healthy controls' daily usage with their personal smartphones (data in-the-wild), achieving 0.79 AUC with 0.74/0.78 sensitivity/specificity, respectively. The results show the potentiality of the proposed approach to process keystroke dynamics arising from users' natural typing activity to detect PD, which contributes to the development of digital tools for remote pathological symptom screening.

Sleep-disordered breathing and quality of life of railway drivers in Greece.

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.

Personality profile of patients with juvenile myoclonic epilepsy.

In the study described here we attempted to evaluate the personality profiles of 25 patients with juvenile myoclonic epilepsy (JME) at the time of diagnosis, before treatment, and to explore a potential relationship between behavioral aspects and clinical outcome. For this purpose we employed a standardized and objective instrument, the Minnesota Multiphasic Personality Inventory (MMPI), and found that patients with JME have a personality profile similar to that of the control group, which corresponds to the 3,1 code type MMPI profile. We also noted that the characteristics of this personality type include those described in patients with long-duration JME by previous researchers. Consequently, we conclude that personality aberrations are not a feature of this syndrome. Furthermore, we observed that under treatment, EEGs normalized in patients who had exhibited "psychotic tendencies" pretreatment. The credibility of our results is supported by the fact that assessment of the personality profile was not confounded by medication or the longitudinal burden of epileptic seizures.

Quality of life and social-economic characteristics of greek male patients on long-term oxygen therapy.

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.

(123)I-FP-CIT SPET striatal uptake in parkinsonian patients with the alpha-synuclein (G209A) mutation A.

Autosomal dominant familial Parkinson's disease (PD) due to the alpha-synuclein (G209A) mutation shares similar clinical characteristics with sporadic PD. Pathological studies however indicate more widespread neuronal degeneration in the familial form. We performed (123)I-FP-CIT SPET (DaTSCAN) study in nine patients with familial PD carrying the alpha-synuclein (G209A) mutation and fifteen matched patients with sporadic disease. Both groups had equal radioligand reduction uptake in the striatum but the alpha-synuclein patients showed less asymmetry and increased putamen to caudate ratio. Our findings indicate that there are minor differences in DAT SPET parameters between alpha-synuclein and sporadic PD patients insufficient to provide differential diagnosis.