Blood and cerebrospinal fluid metallomics uncover mercury, chromium, and iron alterations in Parkinson's disease.

BackgroundGiven 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.ObjectiveTo identify differences in metal concentrations in whole blood and cerebrospinal fluid (CSF) in PD patients compared to controls.

Longitudinal analysis of pupillometry according to type of pharmacotherapy in Parkinson's disease patients.

The aim of this study was to evaluate the effect of different types of pharmacotherapy on pupillometric parameters in PD patients. Dopamine was shown to induce mydriasis by excitation of alpha-adrenergic receptors at the dilator pupillae muscle. Pupil diameter may thus serve as an indirect measure of peripheral dopaminergic activity.

Insights From a Mixed Methods Analysis of 3 Health Technologies Used in Patients With Parkinson Disease: Mixed Methods Study.

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.

Unravelling head tremor mechanisms: insights from speech analysis in essential tremor and cervical dystonia.

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.

Colour discrimination deficit in REM sleep behavior disorder: an analysis of dopaminergic depletion, cognition, and brain morphology.

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.

Four questions to predict cognitive decline in de novo Parkinson's disease.

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.

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.

Background: Leucine-rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown.

mHealth-assisted expiratory muscle strength training in Parkinson's disease patients: A proof-of-concept study.

Background: Expiratory muscle strength training (EMST) is acknowledged for its therapeutic benefits in Parkinson's disease (PD), yet long-term adherence remains a challenge.

Objective: The primary aim of this study was to assess the preliminary effects of EMST coupled with a mobile health app (SpiroGym) on self-efficacy and exercise adherence in PD patients. The secondary aim was to assess the usability of the SpiroGym app.

Differentiating Essential and Dystonic Head Tremor: Exploring Arm Position Effects.

Background: Head tremor poses diagnostic problems, especially when present as an isolated or predominant symptom.

Objectives: To assess how maneuvers activating upper limb postural tremor can help differentiate head tremor in essential tremor (ET) from dystonic tremor (DT) in cervical dystonia.

Methods: 48 patients with head tremor (25 ET, 23 DT), underwent clinical examination and accelerometric evaluation of head and upper limb tremor during routine tremor-inducing tasks.

The impact of expiratory muscle strength training on voluntary cough effectiveness in Huntington's disease.

Background And Purpose: Dysfunction of the airway defence system in Huntington's disease (HD) is a significant but often overlooked problem. Although expiratory muscle strength training (EMST) is frequently utilized in cough effectiveness treatment, its specific impact in HD patients has not yet been explored. This study investigated the effects of EMST on voluntary peak cough flow (vPCF) in HD patients and evaluated the retention of potential gains post-intervention.

Is speech function lateralised in the basal ganglia? Evidence from de novo Parkinson's disease.

Background: Research on the possible influence of lateralised basal ganglia dysfunction on speech in Parkinson's disease is scarce. This study aimed to compare speech in de-novo, drug-naive patients with Parkinson's disease (PD) with asymmetric nigral dopaminergic dysfunction, predominantly in either the right or left hemisphere.

Methods: Acoustic analyses of reading passages were performed.

Preoperative cognitive profile predictive of cognitive decline after subthalamic deep brain stimulation in Parkinson's disease.

Cognitive decline represents a severe non-motor symptom of Parkinson's disease (PD) that can significantly reduce the benefits of subthalamic deep brain stimulation (STN DBS). Here, we aimed to describe post-surgery cognitive decline and identify pre-surgery cognitive profile associated with faster decline in STN DBS-treated PD patients. A retrospective observational study of 126 PD patients treated by STN DBS combined with oral dopaminergic therapy followed for 3.

Smartphone Voice Calls Provide Early Biomarkers of Parkinsonism in Rapid Eye Movement Sleep Behavior Disorder.

Background: Speech dysfunction represents one of the initial motor manifestations to develop in Parkinson's disease (PD) and is measurable through smartphone.

Objective: The aim was to develop a fully automated and noise-resistant smartphone-based system that can unobtrusively screen for prodromal parkinsonian speech disorder in subjects with isolated rapid eye movement sleep behavior disorder (iRBD) in a real-world scenario.

Methods: This cross-sectional study assessed regular, everyday voice call data from individuals with iRBD compared to early PD patients and healthy controls via a developed smartphone application.

Functional neurological disorder: a comparative analysis of experience of Czech, Slovak, and Italian neurologists.

Aim Of Study: We aimed to compare knowledge, opinions, and clinical experiences among Czech, Slovak, and Italian neurologists to identify potential educational gaps and unify understanding.

Clinical Rationale For Study: Functional neurological disorder (FND) is a disabling condition characterised by motor, sensory, or cognitive symptoms which are incompatible with other neurological disorders. Novel diagnostic and treatment approaches have improved FND management.

Leg stereotypy syndrome: phenomenological and quantitative analysis.

Background: Leg stereotypy syndrome (LSS) is a very common, yet underrecognized condition. The pathophysiology of the condition is not well understood.

Objective: To evaluate and describe the visual kinematic characteristics of the repetitive leg movements in individuals with LSS.

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

Pathogenic variants in are one of the most common genetic risk factors for Parkinson's disease (PD). Recently, the lesser-known p.L1795F variant was proposed as a strong genetic risk factor for PD, however, further families are currently lacking in literature.

Efficacy of non-computerized cognitive rehabilitation in Parkinson's disease: A one year follow up study.

In this study, we explored the effect of non-computerized cognitive rehabilitation in patients with Parkinson's disease in comparison with an intervention with elements of music therapy after the completion of a three-month program and one year after the end of the intervention. After the initial neuropsychological examination, the respondents were divided into two intervention groups. The experimental group (n = 26) underwent a twelve-week program of cognitive rehabilitation at a frequency of 60 minutes once a week.

Whole brain pattern of iron accumulation in REM sleep behavior disorder.

Isolated REM sleep behavior disorder (iRBD) is an early stage of synucleinopathy with most patients progressing to Parkinson's disease (PD) or related conditions. Quantitative susceptibility mapping (QSM) in PD has identified pathological iron accumulation in the substantia nigra (SN) and variably also in basal ganglia and cortex. Analyzing whole-brain QSM across iRBD, PD, and healthy controls (HC) may help to ascertain the extent of neurodegeneration in prodromal synucleinopathy.

Abnormal Cerebrospinal Fluid Cytology in Functional Movement Disorders.

Objective: The role of inflammation and neuroimmune mechanisms, which have been documented in various neuropsychiatric disorders including the seizure subtype of functional neurological disorder, remains unclear in functional movement disorders (FMD). To explore these mechanisms, we analyzed selected inflammatory markers in cerebrospinal fluid (CSF) in patients with FMD.

Methods: We compared CSF markers in 26 patients with clinically established FMD (20 females; mean [SD] age = 43.

Impaired dual-task gait in Parkinson's disease is associated with brain morphology changes.

In Parkinson's disease (PD), impaired gait and cognition affect daily activities, particularly in the more advanced stages of the disease. This study investigated the relationship between gait parameters, cognitive performance, and brain morphology in patients with early untreated PD. 64 drug-naive PD patients and 47 healthy controls (HC) participated in the study.

Comparison of quantitative REM without atonia parameters in isolated REM sleep behavior disorder and early untreated Parkinson's disease.

Objectives: To analyze REM sleep without atonia (RWA) metrics in patients with isolated REM sleep behavior disorder (iRBD), Parkinson's disease (PD) and healthy subjects and compare them in terms of degree of presumed brainstem damage.

Methods: Forty-nine iRBD patients, 62 PD patients and 38 healthy controls were included into the analysis. Detailed polysomnographic and clinical data including motor, olfactory, autonomic, and cognitive assessment were obtained in all participants and subsequently compared within groups without RBD (i.

Sleepiness and comorbid sleep disorders in functional motor disorders: a comparative study with central hypersomnia.

Sleep symptoms, including excessive sleepiness, are frequently reported by patients with functional motor disorders (FMD). We aimed to classify the comorbid sleep disorders in FMD, and to investigate the relationship between subjective sleepiness and objective measures of hypersomnia, comparing them with data from people with central hypersomnia. A total of 37 patients (mean [SD] age 46.