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Parkinson’s disease (PD) alters both speech and movement, yet most automated assessments still treat these signals separately. We examined whether combining voice with head motion improves discrimination between patients and healthy controls (HC). Synchronous measurements of acoustic and inertial signals were collected using a HoloLens 2 headset. Data were obtained from 165 participants (72 PD/93 HC), following a standardized mixed-reality (MR) protocol. We benchmarked single-modality models against fusion strategies under 5-fold stratified cross-validation. Voice alone was robust (pooled AUC ≈ 0.865), while the inertial channel alone was near chance (AUC ≈ 0.497). Fusion provided a modest but repeatable improvement: gated early-fusion achieved the highest AUC (≈0.875), cross-attention fusion was comparable (≈0.873). Gains were task-dependent. While speech-dominated tasks were already well captured by audio, tasks that embed movement benefited from complementary inertial data. Proposed MR capture proved feasible within a single session and showed that motion acts as a conditional improvement factor rather than a sole predictor. The results outline a practical path to multimodal screening and monitoring for PD, preserving the reliability of acoustic biomarkers while integrating kinematic features when they matter.

This study aimed to investigate the association between selected variants of genes related to dopamine metabolism pathways and the risk of and progression of Parkinson’s disease (PD). This prospective cohort study was conducted in one academic teaching hospital. The study was conducted on 126 patients diagnosed with idiopathic Parkinson’s disease. Blood samples were collected to conduct a genotyping of MAOB, DRD1, DRD2, and DDC genes. Genotype and allele frequencies of MAOB (rs1799836) variants were not associated with the course of PD. Genotype and allele frequencies of DRD2 (rs2283265) variants were associated with risk of dementia (p = 0.001) and resulted in parts II and III of the UPDRS scale (p = 0.001). Genotype and allele frequencies of DRD2 (rs1076560) variants were associated with risk of dementia (p = 0.001) and resulted in parts II and III of the UPDRS scale (p = 0.001). Genotype and allele frequencies of DDC (rs921451) variants were not associated with the course of PD.

Blastocystis is a common gut protist of humans and various animals worldwide, with a high level of genetic diversity. Neither its zoonotic potential and transmission routes nor its pathogenicity are fully known. This fact, and the fact that Blastocystis is the most abundant eukaryote in human faeces, raises the question of its relevance to public health. Here, we summarise (in relation to other reports) the results of studies on the prevalence and genotypic variation of Blastocystis, which were carried out in animals, humans, and in water environments in Poland. In humans, the prevalence ranged between 0.14 and 23.6%, in some animals reached 58.97%, and in water environments was 5.1%. Seven subtypes were identified in humans (ST1-ST4, ST6, ST7, and ST9), of which ST3 was the most common. Among animals (wild, livestock, and pet animals), eleven STs were identified, with differential host specificity. Humans and animals shared ST1, ST2, ST3, ST6, and ST7, while ST1 and ST3 were present in humans, animals, and water sources. These observations indicate the possibility of Blastocystis transmission between animals and humans. Further studies should be continued in search of the sources and transmission routes of Blastocystis in order to prevent the spread of infections among humans and animals.

Elderly individuals may be at increased risk of falls than their peers. Early identification of balance disorders and their appropriate intervention are crucial for patients with dementia. The aim of this study was to identify postural instability in patients from mild to moderate dementia while performing transitional locomotor tasks under different conditions. Fifty-four patients with dementia and 30 healthy controls voluntarily participated in the study. The transitional locomotor task was performed on two force platforms under four conditions: unimpeded transition, obstacle clearance, step-up and step-down trials. The recording of center of foot pressure displacements was divided into three distinct phases: 1st phase—quiet standing before the transitional locomotor task, 2nd phase—forward stepping, 3rd phase—quiet standing after the transitional locomotor task. Patients with dementia were characterized by a longer transitional locomotor task time than the control group under all conditions (P < 0.03). Significant differences in quiet standing before the transitional locomotor task were observed between patients with dementia and the control group, but only in unimpeded transition and obstacle clearance trials (P < 0.02). No significant differences in quiet standing after step transition were observed between patients with dementia and the control group (P > 0.05). Postural control research in patients with dementia should focus on the functional motor task rather than on a simple motor task (quiet standing). Because even patients with mild dementia have impaired dynamic balance, the assessment of transitional locomotor tasks performed by patients with dementia might provide an indicator of an early diagnosis of dementia and might lead to better individualized physiotherapy.

Background: Essential tremor (ET) is increasingly recognized as a heterogeneous disorder that may present with additional Parkinsonian or cerebellar features, complicating its differential diagnosis from Parkinson’s disease (PD) and degenerative ataxias (DA). Oculomotor assessment has been proposed as a potential tool for identifying disease-specific patterns. Methods: We evaluated eye movement parameters in 50 patients with ET (including subgroups with Parkinsonian and/or cerebellar signs), 50 patients with PD, 42 patients with DA, and 42 healthy controls. Reflexive, pace-induced, and cued saccades were recorded using saccadometry, while smooth pursuit and fixation were assessed with electrooculography. Group comparisons focused on saccadic metrics and the frequency of abnormalities. Results: Hypometria of pace-induced saccades was observed in patients with PD (32.0%) and DA (57.1%) but was not detected in any ET subgroup, including those with Parkinsonian or cerebellar features. Reflexive saccade hypometria was less frequent in ET patients with Parkinsonian features compared to PD (50.0% vs. 66.0%, p = 0.016). Other oculomotor parameters showed substantial overlap between groups. Conclusions: ET patients, including those with additional Parkinsonian or cerebellar signs, showed partially distinct oculomotor features compared with PD and DA, particularly in pace-induced saccades. These findings require confirmation in larger, well-characterized cohorts.

Patients with Parkinson's disease chronically treated with levodopa commonly have delayed or unpredictable onset of its benefits after oral intake. In this study, we assessed the safety and efficacy of CVT-301, a self-administered levodopa oral inhalation powder, for the treatment of patients with Parkinson's disease during off periods. In this randomised, double-blind, placebo-controlled, phase 3 trial, patients were recruited at 65 sites in Canada, Poland, Spain, and the USA. Eligible participants were patients with Parkinson's disease aged 30–85 years, who had daily off periods of 2 h or longer and showed an improvement of 25% or greater in the Unified Parkinson's Disease Rating Scale (UPDRS) motor score from off to on state after use of an oral levodopa plus a dopa-decarboxylase inhibitor combination. Patients were assigned (1:1:1) with a computer-generated randomisation code, in fixed blocks of six, to either CVT-301 60 mg, CVT-301 84 mg, or placebo. Spirometry results and modified Hoehn and Yahr disease stage at screening were used for stratification of treatment groups. Patients, the sponsor, and site personnel were masked to treatment assignment. Each study dose consisted of two capsules administered with an inhaler. Patients were instructed to use the study drug as needed for off periods, and could self-administer up to five doses per day. The primary endpoint was the change in UPDRS motor score from predose to 30 min postdose, assessed at week 12 during an in-clinic off period, in the CVT-301 84 mg group compared with the placebo group. Analysis was by intention to treat. Safety was assessed in all patients who received at least one dose of experimental treatment. This trial is registered with ClinicalTrials.gov, number NCT02240030. Between Dec 4, 2014, and Aug 26, 2016, 351 patients were enrolled and randomly assigned to receive CVT-301 60 mg (115 patients), CVT-301 84 mg (120 patients), or placebo (116 patients). Of these, 339 received the assigned study treatment (CVT-301 60 mg, n=113; CVT-301 84 mg, n=114; placebo, n=112) and 290 completed the study (CVT-301 60 mg, n=96; CVT-301 84 mg, n=97; placebo, n=97). The least-squares mean difference in UPDRS motor score change from predose to 30 min postdose was −5·91 (SE 1·50, 95% CI −8·86 to −2·96) for the placebo group and −9·83 (1·51; −12·79 to −6·87) for the CVT-301 84 mg group (between-group difference −3·92 [–6·84 to −1·00]; p=0·0088). Treatments were safe and well tolerated. Severe adverse events were reported by 2 (2%) of 112 patients in the placebo group, 7 (6%) of 113 in the CVT-301 60 mg group, and 5 (4%) of 114 in the CVT-301 84 mg group, with no severe adverse event occurring in more than one patient in any treatment group. 11 (3%) of 339 patients had 19 serious adverse events (three [3%] of 112 patients in placebo, six [5%] of 113 in CVT-301 60 mg, and two [2%] of 114 in CVT-301 84 mg). Of these, hypotension and atrial fibrillation were assessed by investigators to be possibly related to the study drug. CVT-301 can improve UPDRS motor scores of patients with Parkinson's disease during in-clinic off periods, with few severe or serious adverse events. The long-term safety and efficacy of CVT-301 need to be investigated in future studies. Acorda Therapeutics.

The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype. We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients. In four individuals single nucleotide variations were identified. The coding substitutions were: c. 238A>G (p.Ile80Val), found in two patients, and c.167A>G (p.Glu56Gly), found in one patient. The same variations were present also in the patients' symptomatic as well as asymptomatic relatives. Mutation penetration in the analyzed families was 50-66.7%. In the fourth patient, a novel c.-249C>A substitution in the promoter region was identified. The patient, initially suspected of idiopathic isolated dystonia, finally presented with pantothenate kinase 2-associated neurodegeneration phenotype and was a carrier of two PANK2 mutations. This is the first identified NBIA1 case carrying mutations in both PANK2 and THAP1 genes. In all symptomatic THAP1 mutation carriers (four probands and their three affected relatives) the first signs of dystonia occurred before the age of 23. A primary localization typical for DYT6 dystonia was observed in six individuals. Five subjects developed the first signs of dystonia in the upper limb. In one patient the disease began from laryngeal involvement. An uncommon primary involvement of lower limb was noted in the THAP1 and PANK2 mutations carrier. Neither of these THAP1 substitutions were found in 150 unrelated healthy controls. To the contrary, we identified a heterozygous C/T genotype of c.57C>T single nucleotide variation (p.Pro19Pro, rs146087734) in one healthy control, but in none of the patients. Therefore, a previously proposed association between this substitution and DYT6 dystonia seems unlikely. We found also no significant difference between cases and controls in genotypes distribution of the two-nucleotide -237-236 GA>TT (rs370983900 & rs1844977763) polymorphism.

There is no existing standard, evidence-based, scientific model for motor ability improvement in Huntington's Disease (HD) patients aimed at maintaining independent gait for as long as possible, or performing activities of daily living, the effectiveness of which would be supported by the results of studies using objective research tools. Under these circumstances, the aim of this study was to analyze the influence of motor ability rehabilitation on the spatial-temporal parameters of gait in HD patients. It was an experimental trial. The studied group consisted of 30 patients (17 women and 13 men) with HD. In hospital conditions, the patients participated in the 3-week motor ability l rehabilitation programme tailored to individual needs. The study group was tested using the Vicon 250 three-dimensional gait analysis system before and after the physical exercise programme. Walking speed after therapy increased for the left lower limb from 1.06 (SD 0.24) [m/s] to 1.21 (SD 0.23) [m/s], and for the right lower limb from 1.07 (SD 0.25) [m/s] to 1.20 (SD 0.25) [m/s]. The cycle length increased after the applied therapy for the left lower limb from 1.17 (SD 0.20) [m] to 1.23 (SD 0.19) [m]. The three-week motor ability rehabilitation programme positively influences spatial-temporal gait parameters in HD patients.

The type of diet not only affects the composition of the oral microflora but is also one of the more critical factors associated with an increased risk of Parkinson’s disease, PD. This study compared diet preferences and oral microbiota profiles in patients with PD vs. healthy controls. This study compared the oral microbiota composition of 59 patients with PD and 108 healthy controls (without neurodegeneration) using 16S rRNA gene amplicon sequencing. According to results, oral microbiota in patients with PD is different compared from healthy controls. In particular, decreased abundance of Proteobacteria, Pastescibacteria, and Tenercutes was observed. The oral cavity of patients with PD was characterized by the high relative abundance of bacteria from the genera Prevotella, Streptococcus, and Lactobaccillus. There were also differences in food preferences between patients with PD and healthy controls, which revealed significantly higher intake of margarine, fish, red meat, cereals products, avocado, and olives in the patients with PD relative to healthy controls. Strong positive and negative correlations between specific food products and microbial taxa were identified.

Blastocystis is an intestinal microeukaryote with ambiguous pathogenicity, commonly detected in human feces worldwide. It comprises at least 28 genetically diverse subtypes (STs), 12 of which also occur in a wide range of animal species, giving rise to suspicion of zoonotic transmission. To investigate this, we conducted a molecular study of 145 stool samples of pet animals, and 67 of their owners, living in an urban area in Poland. Blastocystis was detected in only three (2.1%) animal samples (of two bearded agamas and a leopard gecko), while all dogs, cats, and pet rodents were Blastocystis-negative. Blastocystis was also present in three (4.5%) owners of animals, but they were cat owners, not reptile owners, and the subtypes identified in them differed significantly from those of reptiles. Additionally, the frequency of Blastocystis in different groups of dogs (depending on how they were kept) was analyzed. This work is the first to find Blastocystis in pet reptiles, and we encourage further investigation of Blastocystis in this poorly examined group of animals, as well as continued study on the transmission of this microorganism between humans and animals.