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.

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.

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.

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.

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).

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.

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.

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.

Two Novel and Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on Penetrance.

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. , and are the three loci to date linked to familial CCM development, although germline mutations have also been detected in patients affected by sporadic forms.

Touchscreen typing-pattern analysis for detecting fine motor skills decline in early-stage Parkinson's disease.

Parkinson's disease (PD) is a degenerative movement disorder causing progressive disability that severely affects patients' quality of life. While early treatment can produce significant benefits for patients, the mildness of many early signs combined with the lack of accessible high-frequency monitoring tools may delay clinical diagnosis. To meet this need, user interaction data from consumer technologies have recently been exploited towards unsupervised screening for PD symptoms in daily life.

The cortical excitability profile of patients with the G209A SNCA mutation versus patients with sporadic Parkinson's disease: A transcranial magnetic stimulation study.

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.

A multimodal dataset for authoring and editing multimedia content: The MAMEM project.

We present a dataset that combines multimodal biosignals and eye tracking information gathered under a human-computer interaction framework. The dataset was developed in the vein of the MAMEM project that aims to endow people with motor disabilities with the ability to edit and author multimedia content through mental commands and gaze activity. The dataset includes EEG, eye-tracking, and physiological (GSR and Heart rate) signals collected from 34 individuals (18 able-bodied and 16 motor-impaired).

Self-reported autonomic symptoms in Parkinson's disease: properties of the SCOPA-AUT scale.

Background And Aim: Autonomic symptoms in Parkinson's disease (PD) are very common and contribute to the severity of patient's disability. We evaluated the occurrence of autonomic symptoms in Greek patients with PD utilizing the Scales for Outcomes in Parkinson's Disease-Autonomic questionnaire (SCOPA-AUT), a specific 23-item self-completed questionnaire for the assessment of autonomic dysfunction in patients with PD.

Subjects And Methods: One hundred and sixty-one PD patients and forty matched controls were enrolled in the study.

D620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population.

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.

Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.

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.

Clinical characteristics of Parkinson's disease patients in Greece: a multicenter, nation-wide, cross-sectional study.

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.

Evaluation of non-motor symptoms in Parkinson's Disease: An underestimated necessity.

Background And Aim: Νon-motor symptoms in Parkinson's disease (PD) are very common and contribute to the severity of patient's disability. We evaluated the frequency of nonmotor symptoms in patients with PD and we explored the influence of disease characteristics on the presence of these symptoms.

Patients And Methods: One hundred sixty six patients and sixty six matched controls were enrolled in the study.

Cerebral amyloid angiopathy.

The aim of this report was to describe the case of an elderly patient with cerebral amyloid angiopathy and associated dementia who presented with new onset symptomatology compatible with an acute cerebrovascular event. Computed tomography scanning was suggestive of an incipient ischemic cerebrovascular event. Magnetic resonance imaging was requested due to the presence of small hyperdense lesions on CT, and revealed multiple diffuse hypodense parenchymal lesions with hemosiderin deposits, indicative of cerebral amyloid angiopathy.

Association study of rs6812193 polymorphism with Parkinson's disease in a Greek population.

In a recent web based genome-wide association study (GWA) the rs6812193 polymorphism was identified as a new risk factor for Parkinson's disease (PD). The purpose of our study was to examine the association of the rs6812193 polymorphism with Parkinson's disease (PD) in case-control association study of Greek individuals. We studied a total of 343 individuals, 210 Greek patients with sporadic PD and 133 control subjects, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

Lack of association between CX3CR1 V249I and T280M polymorphisms and risk of Parkinson's disease in a Greek population.

Mechanisms that mediate inflammatory responses may be crucial in Parkinson's disease (PD) pathogenesis. In the brain, the chemokine receptor CX3CR1 is exclusively expressed in microglia, selectively mediating microglia-neuron interaction in response to its ligand, the chemokine fractalkine. Two functional single nucleotide polymorphisms, V249I and T280M, in the coding sequence of the CX3CR1 receptor have been found to alter ligand-receptor affinity.

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.

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.

Sympathetic skin response in Parkinson's disease before and after mental stress.

Objectives: This study aims to evaluate sympathetic sudomotor activity in Parkinson's disease (PD) by means of the sympathetic skin response (SSR) and explore its possible changes due to mental stress.

Methods: Sudomotor function was evaluated using SSR in 29 patients with PD (Hoehn and Yahr stage I-IV) without any clinical evidence of autonomic dysfunction. Twenty-seven healthy matched controls were also evaluated.