Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

Introduction: Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype.

Modulating the cholinergic system-Novel targets for deep brain stimulation in Parkinson's disease.

Parkinson's disease (PD) is the second-fastest growing neurodegenerative disease in the world. The major clinical symptoms rigor, tremor, and bradykinesia derive from the degeneration of the nigrostriatal pathway. However, PD is a multi-system disease, and neurodegeneration extends beyond the degradation of the dopaminergic pathway.

Classroom-based learning dynamics: the role of interbrain synchrony.

Classroom learning occurs within a multidimensional context of inter-related neurocognitive, motivational, and socioemotional processes. Multisubject approaches in neuroscience are poised to capture these dynamics using multimodal, time-resolved, and nonlinear methodologies and may help us identify the factors that facilitate or impede learning in such highly complex and social environments.

Impact of Phosphorylation on the Physiological Form of Human alpha-Synuclein in Aqueous Solution.

Serine 129 can be phosphorylated in pathological inclusions formed by the intrinsically disordered protein human α-synuclein (AS), a key player in Parkinson's disease and other synucleinopathies. Here, molecular simulations provide insight into the structural ensemble of phosphorylated AS. The simulations allow us to suggest that phosphorylation significantly impacts the structural content of the physiological AS conformational ensemble in aqueous solution, as the phosphate group is mostly solvated.

Neuroenergetic alterations in neurodegenerative diseases: A systematic review and meta-analysis of in vivoP-MRS studies.

Phosphorus magnetic resonance spectroscopy (P-MRS) is applied for non-invasive studies of neuroenergetic metabolism in neurodegenerative diseases. However, the findings are inconsistent and have not yet been tested in meta-analyses. To address this gap, we performed a systematic review of 29 studies and conducted meta-analyses for 9 studies on Alzheimer's disease (AD, n = 140 patients), 9 studies on Parkinson's disease (PD, n = 183 patients), 3 studies on Progressive Supranuclear Palsy (PSP, n = 42 patients), and 2 studies on Multiple System Atrophy (MSA, n = 24 patients).

Uncovering the hidden effects of repetitive subconcussive head impact exposure: A mega-analytic approach characterizing seasonal brain microstructural changes in contact and collision sports athletes.

Repetitive subconcussive head impacts (RSHI) are believed to induce sub-clinical brain injuries, potentially resulting in cumulative, long-term brain alterations. This study explores patterns of longitudinal brain white matter changes across sports with RSHI-exposure. A systematic literature search identified 22 datasets with longitudinal diffusion magnetic resonance imaging data.

Tips and tricks in tremor treatment.

Tremor, whether arising from neurological diseases, other conditions, or medication side effects, significantly impacts patients' lives. Treatment complexities necessitate clear algorithms and strategies. Levodopa remains pivotal for Parkinson's tremor, though response variability exists.

Neurochemical changes in the progression of Huntington's disease: A meta-analysis of in vivoH-MRS studies.

Proton magnetic resonance spectroscopy (H-MRS) allows measuring specific brain metabolic alterations in Huntington's disease (HD), and these metabolite profiles may serve as non-invasive biomarkers associated with disease progression. Despite this potential, previous findings are inconsistent. Accordingly, we performed a meta-analysis on available in vivoH-MRS studies in premanifest (Pre-HD) and symptomatic HD stages (Symp-HD), and quantified neurometabolic changes relative to controls in 9 Pre-HD studies (227 controls and 188 mutation carriers) and 14 Symp-HD studies (326 controls and 306 patients).

Non-hemorrhagic imaging markers of cerebral amyloid angiopathy in memory clinic patients.

Introduction: The Boston criteria v2.0 for cerebral amyloid angiopathy (CAA) incorporated non-hemorrhagic imaging markers. Their prevalence and significance in patients with cognitive impairment remain uncertain.

Distance Dependence of the Energy Transfer Mechanism in WS_{2}-Graphene Heterostructures.

We report on the mechanism of energy transfer in Van der Waals heterostructures of the two-dimensional semiconductor WS_{2} and graphene with varying interlayer distances, achieved through spacer layers of hexagonal boron nitride (h-BN). We record photoluminescence and reflection spectra at interlayer distances between 0.5 and 5.

The functional brain connectome in isolated rapid eye movement sleep behavior disorder and Parkinson's disease.

Background: Isolated rapid-eye-movement behavior disorder (iRBD) often precedes the development of alpha-synucleinopathies such as Parkinson's disease (PD). Magnetic resonance imaging (MRI) studies have revealed structural brain alterations in iRBD partially resembling those observed in PD. However, relatively little is known about whole-brain functional brain alterations in iRBD.

Characteristic functional connectome related to Post-COVID-19 syndrome.

Post-COVID-19 syndrome is a serious complication following SARS-CoV-2 infection, characterized primarily by fatigue and cognitive complaints. Although first metabolic and structural imaging alterations in Post-COVID-19 syndrome have been identified, their functional consequences remain unknown. Thus, we explored the impact of Post-COVID-19 syndrome on the functional connectome of the brain providing a deeper understanding of pathophysiological mechanisms.

Spin-EPR-pair separation by conveyor-mode single electron shuttling in Si/SiGe.

Long-ranged coherent qubit coupling is a missing function block for scaling up spin qubit based quantum computing solutions. Spin-coherent conveyor-mode electron-shuttling could enable spin quantum-chips with scalable and sparse qubit-architecture. Its key feature is the operation by only few easily tuneable input terminals and compatibility with industrial gate-fabrication.

Early flexible endoscopic evaluation of swallowing after mechanical thrombectomy in stroke patients.

Objective: The aims of the study were to (1) characterize the findings of flexible endoscopic evaluation of swallowing (FEES) in stroke patients undergoing mechanical thrombectomy (MT); (2) analyse the screening performance of the Standardized Swallowing Assessment (SSA); and (3) study the impact of FEES-defined dysphagia on 3-month outcomes.

Methods: This single-centre study was based on a local registry of consecutive acute ischaemic stroke patients undergoing MT during a 1-year period. Patients received FEES within 5 days of admission regardless of the result of dysphagia screening.

Can people empathize with offenders and victims during violent scenes? Behavioral and brain correlates of affective and cognitive empathy considering victim vs. offender perspective using the Bochumer affective and cognitive empathy task (BACET).

Empathy is defined as the capacity to resonate with others' emotions and can be subdivided into affective and cognitive components. Few studies have focused on the role of perspective-taking within this ability. Utilizing the novel Bochumer Affective and Cognitive Empathy Task (BACET), the present study aims to determine the characteristics of specific empathy components, as well as the impact of offender vs.

Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.

Background: Friedreich's ataxia (FA) is a rare multisystemic disorder which can cause premature death.

Objectives: To investigate predictors of survival in FA.

Methods: Within a prospective registry established by the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS; ClinicalTrials.

Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.

Spinocerebellar ataxia type 3/Machado-Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross-sectional data of 292 spinocerebellar ataxia type 3/Machado-Joseph disease mutation carriers.

Validation of Dual-Action Chemo-Radio-Labeled Nanocarriers with High Efficacy against Triple-Negative Breast Cancer.

Identification and selectivity of molecular targets with prolonged action for difficult-to-target cancer such as triple-negative breast cancer (TNBC) represent a persisting challenge in the precision delivery of therapeutics. In the quest to target undruggable sites, this study validates the bioavailability of polydopamine-sealed mesoporous silica nanocarriers (PDA-mSiO) for in vivo drug delivery to TNBC. For controlled transport and release, the chemotherapeutic drug doxorubicin was encapsulated in mSiO nanocarriers coated with a PDA layer serving as a stimuli-responsive gatekeeper or seal.

Loss of the parkinsonism-associated protein FBXO7 in glutamatergic forebrain neurons in mice leads to abnormal motor behavior and synaptic defects.

Mutations in PARK15, which encodes for the F-box protein FBXO7 have been associated with Parkinsonian Pyramidal syndrome, a rare and complex movement disorder with Parkinsonian symptoms, pyramidal tract signs and juvenile onset. Our previous study showed that systemic loss of Fbxo7 in mice causes motor defects and premature death. We have also demonstrated that FBXO7 has a crucial role in neurons as the specific deletion in tyrosine hydroxylase-positive or glutamatergic forebrain neurons leads to late-onset or early-onset motor dysfunction, respectively.

Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.

Background: The Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure in the European natural history study for Friedreich ataxia (FA).

Methods: To assess distribution and longitudinal changes of SARA scores and its single items, we analyzed SARA scores of 502 patients with typical-onset FA (<25 years) participating in the 4-year prospective European FA Consortium for Translational Studies (EFACTS). Pattern of disease progression was determined using linear mixed-effects regression models.

The relationship between neurogenic dysphagia, stroke-associated pneumonia and functional outcome in a cohort of ischemic stroke patients treated with mechanical thrombectomy.

Introduction: Mechanical thrombectomy (MT) is an established treatment approach in acute ischemic stroke patients with large vessel occlusion (LVO). Recent studies suggest that the prevalence of dysphagia and pneumonia risk is increased in this patient population. The aim of this study was to systematically evaluate the prevalence, predictors, and influence of neurogenic dysphagia for 3-month outcome in a large population of patients receiving MT and to elucidate the relationship between dysphagia, stroke-associated pneumonia (SAP) and medium-term functional outcome.

Chemically detaching hBN crystals grown at atmospheric pressure and high temperature for high-performance graphene devices.

In this work, we report on the growth of hexagonal boron nitride (hBN) crystals from an iron flux at atmospheric pressure and high temperature and demonstrate that (i) the entire sheet of hBN crystals can be detached from the metal in a single step using hydrochloric acid and that (ii) these hBN crystals allow to fabricate high carrier mobility graphene-hBN devices. By combining spatially-resolved confocal Raman spectroscopy and electrical transport measurements, we confirm the excellent quality of these crystals for high-performance hBN-graphene-based van der Waals heterostructures. The full width at half maximum of the graphene Raman 2D peak is as low as 16 cm, and the room temperature charge carrier mobilitiy is around 80 000 cm/(Vs) at a carrier density 1 × 10cm.