Freezing of gait (FOG) is a highly disabling, poorly dopa-responsive symptom of Parkinson's disease (PD) that becomes increasingly prevalent with disease progression and is one of the main contributors to falls and loss of independence. Although FOG has long been viewed as a motor phenomenon, converging evidence shows that executive impairment-particularly deficits in attention, task-switching, inhibition, and visuospatial processing-is strongly implicated in its pathophysiology. Yet the field lacks a coherent framework explaining how these cognitive processes contribute to FOG and how they should be targeted in therapy. This narrative review synthesizes current evidence on the neural mechanisms linking cognitive dysfunction and FOG. Literature was identified through targeted searches of neuroimaging, behavioral, and rehabilitation studies in PD with and without FOG. Findings consistently demonstrate altered activity and connectivity within corticostriatal and corticolimbic circuits in freezers, including inefficient hyperactivation of the frontal, prefrontal, and posterior parietal cortices, and abnormal coupling between the ventral striatum, precuneus, and amygdala. These patterns suggest that cognitive networks become overrecruited yet insufficient to compensate for impaired motor automaticity, especially under dual-task demands or emotional load. Robust cognitive reserve can serve as compensation, whereas cognitive impairment can contribute to FOG in situations with high cognitive load. Freezers show disproportionate deficits in inhibitory control, visuospatial processing, and task-switching, which correlate with gait initiation failures and FOG severity. Cognitive training, particularly dual-task and other motor-cognitive interventions, shows promising yet variable effects on gait, executive performance, and FOG; however, the field lacks clarity about which cognitive and executive domains are causally involved and which merely reflect compensatory strain. FOG-specific mechanistic models integrating motor, executive, and limbic dysfunction are needed to guide individualized cognitive training and optimize therapeutic outcomes for people with PD.

AIM OF THE STUDY:This study aimed to analyze the most established genetic causes of Parkinson's disease (PD) in a cohort of patients from Czechia. CLINICAL RATIONALE FOR THE STUDY:PD is the second most common neurodegenerative disorder, with both genetic and environmental factors contributing to its pathogenesis. MATERIAL AND METHODS:We examined 214 patients with PD and 186 controls. Each patient underwent an examination using the Montreal Cognitive Assessment to assess the severity of cognitive impairment. Genetic analysis was performed using next- -generation sequencing and multiplex ligation-dependent probe amplification, focusing on mutations in GBA1, LRRK2, PINK1, PRKN, and SNCA genes. RESULTS:Clinically relevant mutations in GBA1 (pathogenic/likely pathogenic or severe/mild/risk variants) were the most frequently observed variants (n = 30; 14.0% of the PD cohort in total), including both known pathogenic mutations and the mild risk allele p.Glu365Lys (n = 12; 5.6% of cases), which was associated with earlier disease onset. Pathogenic mutations were also detected in LRRK2 (n = 2; 0.9%), SNCA (n = 1; 0.5%), and compound heterozygous mutations in PRKN (n = 2; 0.9%). Carriers of heterozygous mutations in PRKN were equally represented in patients and controls. No pathogenic PINK1 mutations were identified. Cognitive impairment was not significantly more frequent in GBA1 mutation carriers (p = 0.320). A positive family history of PD was more common in patients than in healthy controls (n = 51; 24% vs. n = 6; 3%, p < 0.001). CONCLUSIONS AND CLINICAL IMPLICATIONS:Our findings highlight notable genetic variability in Czech PD patients, particularly involving GBA1 mutations. However, these variants were not associated with early cognitive decline. The study underscores the value of genetic screening in PD and the need for further research into genotype-phenotype correlations.

Background:Aspiration pneumonia is a leading cause of death in Parkinson disease (PD). Expiratory muscle strength training (EMST) is a promising intervention for respiratory and swallowing dysfunction. However, long-term EMST adherence is frequently poor in PD. Objective:This study aims to determine whether mobile health (mHealth)-assisted EMST with the SpiroGym app (Czech Technical University) improves long-term adherence and physiological outcomes versus conventional EMST among participants at risk for nonadherence. Methods:In this single-center, parallel, phase 2 randomized controlled trial, 75 individuals with PD were randomized 1:1 to conventional EMST (control; n=38) or the same protocol enhanced with the SpiroGym app (experimental; n=37), using a simple computer-generated randomization sequence. The SpiroGym is an mHealth app that provides real-time performance monitoring, direct visual feedback, and longitudinal progress tracking. All participants completed 8 weeks of semisupervised intensive EMST with biweekly in-person reassessments, followed by 16 weeks of unsupervised maintenance training. The primary outcome was adherence during weeks 8 to 24 among participants at risk for nonadherence, defined a priori at week 8 as Self-Efficacy for Home Exercise Program Scale (SEHEPS) less than 59. Because risk status was determined at week 8 and all participants subsequently entered the unsupervised phase, individuals not classified as at-risk were not excluded. Their data from week 8 onward were reported alongside the at-risk group. Secondary outcomes were changes in maximum expiratory pressure and SEHEPS. Results:No study-related adverse events occurred. Groups were well matched at baseline (control vs experimental: mean disease duration 7.0 (SD 5.7) vs 7.3 SD 4.7) y; mean Hoehn-Yahr 1.97 (SD 0.6) vs 2.0 (SD 0.5)). The mixed-effects model showed no significant 3-way interaction (group×interval×SEHEPS risk; P=.14). At week 24, the at-risk category for the nonadherence cohort comprised 34 participants (control, n=17; experimental, n=17). In this at-risk cohort, the experimental group demonstrated a smaller decline in adherence during weeks 8 to 24 than controls (β=496.9, 95% CI 130.7-863.3; P=.008), completing 1073 (95% CI 643-1502) expiratory maneuvers versus 525 (95% CI 358-692). Maximum expiratory pressure increased in both groups from weeks 0 to 24, with larger gains in the experimental group (+43.1, 95% CI 32.4-53.8 cmH₂O) than in controls (+22.8, 95% CI 13.8-31.8 cmH₂O; P=.006; Cohen d=0.74). SEHEPS improved after intensive training in both groups, but only the experimental group exceeded the 12-point minimal detectable change at the 95% confidence limit. Conclusions:This is the first randomized controlled trial to integrate mHealth with EMST. Unlike prior studies in the EMST field, we focused on sustaining long-term exercise adherence. SpiroGym-assisted EMST resulted in higher long-term adherence and greater gains in expiratory muscle strength than conventional EMST. In real-world PD care, assessing self-efficacy after the supervised EMST phase may help identify individuals who would benefit from digital support, making mHealth-assisted EMST a practical approach for maintaining exercise adherence.

Disorders of airway protection, including impaired cough and swallowing, are clinically important complications of Parkinson’s disease. Expiratory muscle strength training (EMST) is an established non-pharmacological intervention targeting these deficits. The aim of this study was to evaluate the acute effect of visual feedback provided by the SpiroGym mHealth app on expiratory muscle activation during EMST in people with Parkinson’s disease. We conducted a single-center, randomised, two-period crossover trial in people with Parkinson’s disease. Participants performed EMST under two conditions, in randomised order: conventional EMST without visual feedback and EMST with real-time visual feedback provided by the SpiroGym app. Expiratory muscle activation was measured using surface electromyography of the abdominal muscles. The primary outcome was the within-participant difference in mean peak normalised internal oblique activity between conditions. Secondary outcomes included external oblique and rectus abdominis activity, associations with neuropsychiatric symptoms, and participant-reported usability ratings. Twenty participants were randomised, and 19 completed the study and were included in the final analysis. No study-related adverse events occurred. Visual feedback significantly increased mean peak normalised internal oblique activity compared with no feedback (118.2 ± 36.4

Cathodal transcranial direct current stimulation (C-tDCS) is a potential neuroprotective method in the hyperacute phase of ischemic stroke. We aimed to assess safety, tolerability, feasibility, and potential efficacy of C-tDCS in stroke patients with salvageable penumbra. DICAST-SF was a double-blind, randomized, sham-controlled (3 active: 1 sham), 3 + 3 dose-escalation trial. Inclusion criteria were stroke due to occlusion of the internal carotid or middle cerebral artery, last known well time within 24 h, substantial penumbra on CT perfusion, and ineligibility for mechanical thrombectomy. We applied C-tDCS at six dose tiers over the affected primary motor cortex. The primary safety outcome was the symptomatic intracranial hemorrhage (SICH) rate at 24 h post-stimulation. Secondary outcomes included the rates of asymptomatic intracranial hemorrhage (AICH), early neurological deterioration, serious adverse events, and 90-day mortality. Tolerability was assessed by completion rate and questionnaires. Feasibility threshold was defined as median randomization-to-C-tDCS start time within 10 min in the last ten patients. Twenty five patients were enrolled (19 active, 6 sham), mean age 81 (SD 12) years, 16 women, median NIHSS 8 (IQR 6-16). Ten active and 4 sham patients were treated with thrombolysis. No SICH occurred. Three AICH (2 post-thrombolysis) occurred in the active arm. Rates of early deterioration, serious adverse events, and mortality (4 active vs. 2 sham) were comparable. C-tDCS was well tolerated and feasible, median randomization-to-C-tDCS start time was 8 (7-9) min. C-tDCS in hyperacute stroke was safe, well tolerated, and feasible. Findings support further evaluation in larger efficacy trials. TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT04801446.

Over the course of Parkinson’s disease (PD), there is considerable intersubject variability in gray matter (GM) loss across a wide range of subcortical structures and cortical areas, which is often predictive of the clinical trajectory of the disease. The biological or clinical factors underlying these individual differences are not well understood. Obstructive sleep apnea (OSA) is a sleep-disordered breathing that is associated with an increased risk of cognitive impairment and neurodegeneration. In this study, we investigated whether moderate-to-severe OSA in untreated de novo PD is linked to more severe GM atrophy compared to PD without OSA and a group of controls. High-resolution structural 3 T MRI T1 and T2-weighted scans were used to estimate subcortical GM volumes and hippocampal subfields, and to perform vertex-wise analyses of cortical thickness and cortical surface area. We found that the presence of OSA was associated with a significant bilateral reduction in hippocampal volume, particularly in the CA1, CA3, and subicular regions, an effect specifically observed in PD patients and not in the control group. These findings suggest that the co-occurrence of OSA and PD may be related to early structural brain changes, highlighting the importance of timely OSA diagnosis and management to potentially delay cognitive decline in PD.

Parkinson's disease (PD) affects physical activity, and physical activity reduces the burden of PD. Although shown in studies using inertial measurement units (IMU), it remains unclear at which position physical activity change can best be detected in this population. Within the FAIRPARK-II trial, a subgroup of 25 newly diagnosed persons with PD (pwPD) not taking disease-specific medication yet documented their physical activity and, in parallel, wore IMUs on the most affected ankle, wrist and the lower back for two weeks. Participant-reported physical activity was transformed into Metabolic Equivalents of Tasks (METs) in 15-minute intervals using The Compendium of Physical Activities; Euclidean Norm Minus One (ENMO) values were calculated and averaged over the same intervals for the IMU data. Data of at least 3 days with at least four simultaneous 15-minute epochs of both valid IMU and diary data within the time window (9.00 to 18.00) per participant was included, resulting in a total of 8,494 15-minute epochs used for this analysis. Root mean square error (RMSE) values were calculated between scaled normalized IMU-derived ENMO and normalized MET values for each of the nine IMU-MET combinations (three IMU positions × three MET intensity levels). The wrist and lower back IMU showed comparable RMSE values across all MET intensity levels, with both IMU positions showing lower RMSE values than the ankle position. Tremor affected RMSE negatively, whereby the lower back position may be slightly favorable for the assessment of physical activity in those with tremor. This prospective longitudinal dataset from a very rare cohort provides novel insights into the assessment of physical activity during the earliest clinically evident phase of Parkinson's disease without disease-specific medication, which may inform future clinical trials and observational studies.

No sufficiently sensitive biomarker exists to monitor disease progression to assess treatment efficacy in synucleinopathies such as Parkinson's disease (PD), particularly during the prodromal phase when interventions are likely to be most effective. Existing digital biomarkers often rely on active tasks or clinic-based assessments, limiting their scalability and real-world applicability. In this proof-of-concept study, we evaluated whether linguistic features derived from real-world phone call recordings using large language models can serve as a language-based progression biomarker in isolated rapid eye movement sleep behavior (iRBD). In this two-year study, we enrolled 74 participants, including 21 iRBD (20 men), 26 PD (25 men), and 27 healthy controls (26 men) age-matched to iRBD participants. Speech data collection occurred remotely in participants' natural environments through routine phone calls. Over 34,000 phone calls (<1,400 hours) were recorded over the two-year period. Compared to healthy controls, individuals with iRBD exhibited significant declines in sentence coherence (p = 0.016), semantic-syntactic diversity (p < 0.001), topic diversity (p < 0.001), and sentence probability (p < 0.001) over the two years. Prodromal changes in iRBD were detectable with an area under the curve of 0.82 from as few as 21 calls. For a two-year neuroprotective trial targeting 50% drug efficacy, the estimated sample size was 78 iRBD participants per arm based on a time-to-event analysis. These findings demonstrate that fully automated phone call analysis can detect both prodromal and progressive changes in alpha-synucleinopathy. This approach is scalable, minimizes the effort required from both patients and clinical staff, and enables remote, low-burden monitoring in screening at-risk populations and therapeutic trials.

Tremor is the most prevalent human movement disorder, characterized by rhythmic oscillations of a body part. Accurate tremor assessment is essential for diagnosis, monitoring, and treatment evaluation. Traditional methods rely on accelerometry-based measurements, requiring direct sensor attachment, which may be impractical in some settings. We developed a novel algorithm for detecting tremors from video recordings based on the motion of the center of mass and implemented it in the open-source software TremAn3. Motion data were extracted from 2D video recordings of both hands and the head, and spectral analysis was then performed to quantify the tremor by calculating peak tremor power and peak power frequency. A total of 30 videos were recorded from 30 participants with essential or dystonic tremors. Simultaneously, acceleration signals were collected using inertial measurement units (IMUs) placed on the backs of the hands and forehead as a gold-standard reference. Agreement between video- and IMU-derived metrics was assessed using intraclass correlation coefficients (ICCs) and mean absolute error (MAE). For PP, video-based estimates showed moderate-to-good agreement (ICC: 0.70 left hand, 0.77 right hand, 0.80 head) with MAE of 8.12–10.80 dB. For PPF, agreement was moderate for the hands (ICC: 0.60 left, 0.67 right; MAE: 0.54–0.76 Hz) but poor for head PPF (ICC: 0.08; MAE: 2.06 Hz). Our results indicate that video analysis can serve as a viable alternative to traditional accelerometry for tremor quantification. This contactless method holds significant potential for telemedicine and research applications.

Rapid eye movement (REM) sleep behavior disorder (RBD) is characterized by dream-enacting behaviors occurring in the presence of REM sleep without atonia (RWA) and is most commonly associated with synucleinopathies. Structural lesions of the brainstem have been reported as a potential substrate of secondary RBD, yet polysomnographically confirmed cases remain sparsely documented. We report two patients with focal ischemic brainstem lesions and clinically suspected RBD who underwent detailed neurological evaluation, neuroimaging, and video-polysomnography. In both patients, polysomnography demonstrated RWA consistent with RBD. The first patient, a 75-year-old woman, exhibited prominent vocalizations and complex motor behaviors during REM sleep with RWA affecting 91% of REM sleep duration. Brain magnetic resonance imaging revealed bilateral pontine gliotic changes and a punctate subacute ischemic lesion in the right pontine tegmentum. The second patient, a 41-year-old man with a prior ischemic stroke involving the right medulla oblongata at the ponto-bulbar junction, presented with dream-enacting behaviors and with RWA affecting 41% of REM sleep duration. In both cases, motor manifestations during REM sleep were not attributable to respiratory events. Clinical context and neuroimaging findings supported a structural ischemic etiology. These cases highlight focal brainstem ischemia as a plausible structural substrate of RBD and underscore the importance of detailed polysomnographic and neuroimaging assessment in patients with cerebrovascular disease presenting with dream-enacting behaviors. Focal ischemic brainstem lesions should be considered among the potential contributors to RBD, and their recognition may have important implications for diagnostic evaluation and clinical decision-making.

Background:Mixed movement disorder due to pathogenic variants in the ADCY5 gene (MxMD-ADCY5) is a rare condition characterized predominantly by paroxysmal involuntary choreiform movements involving the limbs, face, and neck, often accompanied by dystonia and myoclonus. Speech disturbances, delayed motor development, cognitive impairment, axial hypotonia, and episodic exacerbations of dyskinesia are also common features. Currently, treatment strategies remain limited; however, several studies indicate a beneficial effect of caffeine in the management of dyskinesia. Objective:This clinical report aims to present a case of MxMD-ADCY5 showing a high therapeutic response to caffeine. To our knowledge, this is the first reported Ukrainian patient with this condition demonstrating dramatic improvement in paroxysmal dyskinesia after treatment with high-dose caffeine. Conclusions:In our clinical observation, administration of caffeine at a total daily dose of 600 mg resulted in significant clinical improvement in an adult patient with MxMD-ADCY5 over a follow-up period of at least 6 months. No adverse events or side effects were reported.

BACKGROUND:Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a typical natural history, including early stagnation, rapid regression, a pseudostationary phase, and late motor deterioration. Seizures, autistic features, breathing abnormalities, stereotypies, and various movement disorders are often present. Currently, the diagnosis of atypical RTT requires a period of regression and fulfillment of at least two main criteria, and at least five of 11 supportive criteria. CASES:We describe five patients (aged 20-61 years), unexpectedly diagnosed with RTT, exhibiting a movement-disorder-predominant phenotype, most commonly dystonia. These patients lacked the typical natural course of RTT and, in most cases, showed preserved social functioning and an essentially normal life. As none of the patients fulfilled the diagnostic criteria for either typical or atypical RTT, we have labeled them as "atypical atypical" RTT. CONCLUSIONS:We recommend a revision of the current diagnostic criteria for RTT to include also more atypical presentations.

Background Fibromyalgia is characterized by widespread pain, fatigue, sleep and cognitive symptoms. It overlaps clinically with functional motor disorder (FMD), yet its prevalence and impact in FMD remain uncertain.Objective To determine the prevalence of fibromyalgia in FMD using the current criteria and evaluate its effects on motor symptoms and health-related quality of life (HRQoL).Methods A total of 138 consecutive FMD patients completed the Fibromyalgia Survey Questionnaire, subjective motor ratings and HRQoL measures. Motor impairment was assessed using the Simplified FMD Rating Scale, and physical/psychiatric comorbidities and medication use were recorded.Results Fibromyalgia was present in 44.9% of patients (95% CI: 36.5-53.6%). Those with fibromyalgia had more severe motor symptoms, lower HRQoL and greater medication use. Higher fibromyalgia severity, S-FMDRS, and psychiatric comorbidity were independent predictors of lower HRQoL.Conclusions Fibromyalgia is common in FMD and associated with worse clinical outcomes, supporting systematic screening and integrated management.

Introduction: Cathodal transcranial direct current stimulation (C-tDCS) is a potential neuroprotective method in the hyperacute phase of ischemic stroke. In rodent models, C-tDCS reduced final infarct volume and improved functional outcome. Our aim was to assess safety, tolerability, feasibility, and potential efficacy of C-tDCS in stroke patients with salvageable penumbra. Methods: Our study was a single-center, double-blind, randomized, sham-controlled (3 active: 1 sham), 3+3 dose-escalation trial. Inclusion criteria were stroke due to occlusion of the internal carotid or middle cerebral artery, last well-known time within 24 h, evidence of substantial penumbra on baseline CT perfusion, and ineligibility for mechanical thrombectomy. We applied C-tDCS at six dose tiers over the affected primary motor cortex (1 or 2 mA for 20 min in 1 to 3 cycles with 20 min breaks). The primary safety outcome was the symptomatic intracranial hemorrhage (SICH) rate at 24 h post-stimulation. The secondary safety outcomes were the rates of asymptomatic intracranial hemorrhage (AICH), early neurologic deterioration, serious adverse events, and mortality within 90-day follow-up. Tolerability was assessed by the rate of patients completing the entire stimulation period and by structured questionnaires. The success threshold for feasibility was median randomization-to-C-tDCS start time within 10 min in the last ten patients. Exploratory efficacy outcomes included infarct growth at 24 h, and National Institute of Health Stroke Scale (NIHSS) and modified Rankin Scale at day 90. Results: A total of 25 patients were enrolled (19 active, 6 sham), mean age (SD) 81 (12) years, 9 males, median NIHSS (Q1–Q3) 8 (6–16) points. Ten active and 4 sham patients were treated with thrombolysis. No SICH and 3 AICH (2 after thrombolysis) occurred in the active arm. We observed no significant difference in serious adverse events. The mortality rate was also comparable (4 active vs 2 sham patients). C-tDCS was well tolerated, all patients completed the stimulation period. Side effects were only mild and transient. C-tDCS was feasible, median randomization-to-C-tDCS start time was 8 (7–9) min. No significant differences in other outcome measures were observed. Conclusions: The application of C-tDCS in hyperacute ischemic stroke was safe, well tolerated, and feasible. Our results support the use of C-tDCS in larger efficacy trials.

Head tremor is a common symptom in both essential tremor (ET) and cervical dystonia (CD). Distinguishing between these two conditions can be challenging in clinical practice, particularly when head tremor is the dominant feature. Our goal was to explore the potential of speech assessment in recognizing the mechanisms of head tremor in patients with ET and CD. Objective acoustic vocal assessments of oral diadochokinesis, phonatory stability, vocal tremor, and speech timing were performed. Of the 93 patients assessed, 39 had cervical dystonia (CD) with head tremor, 38 had ET with head tremor (ET-HT), and 16 had ET with no head tremor (ET-nHT). Compared to both CD and ET-nHT, ET-HT showed irregular sequential motion rate, excessive pitch fluctuations, increased noise, and higher extent of vocal vibrato. Compared to CD, ET-HT also demonstrated slower sequential motion rate, prolonged pauses, and a slower articulation rate. Additionally, ET-HT had more pronounced vocal tremolo compared to ET-nHT. Speech assessment provided discrimination between the CD and ET-HT groups with an area under curve of 0.80. This study underscores the promising potential of speech analysis in recognizing mechanisms of head tremor in patients with ET or CD, revealing more severe and distinct speech impairments in ET-HT patients compared to those with CD.

Early identification of cognitive decline (CD) in de novo Parkinson’s disease (PD) is crucial for choosing appropriate therapies and recruiting for clinical trials. However, existing prognostic models lack flexibility, scalability and require costly instrumentation. This study explores the utility of standard clinical questionnaires and criteria to predict CD in de novo PD. A total of 186 patients from the Parkinson Progression Markers Initiative (PPMI) and 48 patients from the Biomarkers of Parkinson’s Disease project (BIO-PD) underwent clinical interviews, comprehensive tests, and questionnaires. A model based only on age of disease onset, history of stroke, history of fainting, and vocalization during dreams predicted CD in 2 and 4-year horizons with an area under curve (AUC) of 70% ± 10% standard deviation (cross-validated PPMI), 79% (overall PPMI), and 78% (validation in BIO-PD). This approach enables rapid preliminary screening using just four simple questions, achieving predictive accuracy comparable to instrumentation-based methods while reducing assessment time.

Background:The transition to a patient-centered integrated care model in Parkinson disease (PD) highlights the crucial role of technology. "Technology-enabled care" (TEC) supports diagnosis, disease tracking, self-care education, and care team communication. However, gaps remain in developing and evaluating patient-centered TEC solutions. Objective:This study aims to evaluate the usability and acceptability of 3 health technologies for PD and discuss the significance of the results. Methods:This multicenter international study was conducted from December 2020 to September 2023 across 5 tertiary PD centers. Participants included individuals diagnosed with PD who were recruited through these centers. Each participant provided informed consent before enrollment. The study assessed the usability and acceptability of 3 different health technologies designed to support PD management. The System Usability Scale (SUS) was used as the primary quantitative measure, with scores ranging from 0 to 100, with higher scores indicating greater usability. Additionally, participants completed a custom usability and acceptability survey, which included Likert-scale questions and open-ended qualitative feedback. To ensure a comprehensive evaluation, structured user testing sessions were conducted. Participants interacted with each technology under guided conditions, followed by independent use in their home environment for a specified period. Data were collected at baseline and after the trial period to assess any changes in user perception. Qualitative thematic analysis of free-text responses was performed to identify key themes related to user experience, perceived benefits, and challenges. Two independent researchers analyzed the qualitative data to ensure reliability and consistency in theme extraction. Results:The study included 43 people with PD, of whom 15 were female. The median age of participants was 67.0 (IQR 59.9-71.5) years, and the median disease duration was 9.6 (IQR 5.0-13.7) years. The 3 health technologies demonstrated acceptable usability, with median SUS scores ranging from 74.0 to 82.5. Participants expressed a generally positive attitude toward TEC, with a strong interest in continued use. Users particularly valued confidence in navigating the technology and its role in facilitating disease management. The qualitative analysis highlighted several challenges. Users frequently mentioned the need for improved technical support, clearer instructional materials, and simplified report formats to enhance interpretability. Some participants experienced difficulties with initial setup and required assistance, emphasizing the importance of user-friendly onboarding processes. Conclusions:Our study underscores the importance of incorporating patient perspectives in the development of health technologies for PD. Positive user experiences demonstrate the potential of TEC to enhance disease management, but addressing usability challenges remains critical. Future efforts should focus on refining user interfaces, providing comprehensive technical support, and ensuring clear, accessible instructions to maximize adoption and long-term engagement. By prioritizing these aspects, TEC can play a pivotal role in advancing patient-centered health care solutions for PD.

Isolated REM sleep behavior disorder (iRBD) is associated with impaired colour discrimination, cognitive deficits and morphological changes. This study evaluates whether colour discrimination deficits in iRBD are mediated by cognitive functions or related to dopaminergic denervation and brain morphology. A sample of 73 patients with iRBD and 77 controls underwent neuropsychological assessment, and colour discrimination assessment using the Farnsworth Munsell 100 Hue Test, DAT-SPECT, and MRI. The data were analyzed using multiple regression, mediation analysis, and voxel-based morphometry. Significant between-group differences were found in total colour discrimination as well as in the red-yellow spectrum. The association between iRBD and performance in the yellow-green spectrum was mediated by cognitive functions, as measured by the Montreal Cognitive Assessment. In controls, a positive correlation between the yellow-green spectrum and the left inferior frontal gyrus was observed compared to patients, however, this association was largely driven by a single data point. The performance in the green–blue spectrum was associated with the activity of dopamine transporters in the caudate nucleus. No interactions were found for total colour discrimination in any analysis. The present findings demonstrate a colour vision deficit in iRBD, which is not directly linked to any of the proposed potential explanatory mechanisms.

Background Given the increasing global prevalence of Parkinson's disease (PD) and its complex etiopathogenesis, understanding the role of environmental factors is crucial. Prior investigations suggested a potential link between metal exposure and PD, yet conflicting results emerged. Objective To identify differences in metal concentrations in whole blood and cerebrospinal fluid (CSF) in PD patients compared to controls. Methods The study involved an untreated de novo PD patient cohort from a single-center (n = 102, 38% females, mean age 59.5 (SD 12.5)) and a group of controls with comparable age and sex distribution (n = 127, 35% females, mean age 57.5 (SD 12.4)). Whole blood in all participants and CSF samples in a subgroup (n = 57/55 PD/controls) were collected and concentrations of V, Cr, Mn, Fe, Co, Ni, Cu, Zn, As, Se, Mo, Cd, Sn, Hg, and Pb, were determined through inductively coupled plasma mass spectrometry. Results PD patients exhibited higher concentrations of Hg in both blood and CSF (p = 0.003). Cr concentrations were lower in both blood (p = 0.004) and CSF (p < 0.001) of PD patients. Altered Fe metabolism was evident, with higher blood (p = 0.001) and lower CSF (p = 0.002) Fe concentrations. Other metal alterations in PD included higher Zn (p = 0.008) in blood and lower Co (p < 0.001), Mn (p = 0.006), V (p = 0.009), and Ni (p < 0.001) in CSF. Conclusions The findings highlight abnormalities in metal concentrations in biofluids associated with PD, particularly regarding Hg, Cr, and Fe which exhibited alterations in blood and CSF. These findings suggest metal dysregulation in PD, particularly Hg, Cr, and Fe, with potential implications for understanding PD pathogenesis.