In process

Mild cognitive impairment (MCI) is associated with early, regionally selective neurodegenerative changes that may affect socioemotional functioning before atrophy becomes widespread. This study examined whether structural brain alterations in MCI relate to facial emotion recognition performance. [...]

Understanding how cognitive demands and pathology reshape functional connectivity (FC) requires multivariate, region-specific methods. Here, we introduce one-class SVM-based connectome anomaly recognition (OSCAR), which detects condition-related deviations in regional connectivity profiles. [...]

Genome-wide association studies (GWASs) identified multiple genetic variants associated with Alzheimer's disease (AD) risk, yet the biological pathways linking these to amyloid and tau pathology remain unclear.We conducted a meta-analysis of recent GWASs to identify independent genome-wide significant single nucleotide polymorphisms which were mapped via gene-set enrichment to derive pathway-specific polygenic risk scores (pPRSs). Analyses included 441 amyloid-positive participants from the Alzheimer's Disease Neuroimaging Initiative (ADNI; 224 with longitudinal tau positron emission tomography [PET]) and 250 amyloid-positive participants from the Anti-Amyloid Treatment in Asymptomatic Alzheimer's Disease (A4) study (113 with longitudinal tau PET). [...]

The hippocampus is characterized by a stereotypical macroscopic structure, where the nuclei are densely and heterogeneously packed among different subregions of the hippocampus. Despite the fact that tissue-specific cellular organization has been implicated in neural function, it has been technically challenging to quantitatively analyze mesoscopic cellular organization in the hippocampus due to its high cellular density. [...]

Language is a cognitive domain essential for communication; however, its responsiveness to acute physical exercise or activity is unexplored. This quasi-randomized trial examined the effects of different intervention modalities on verbal functions and attention. [...]

Target trial emulation (TTE) studies are increasingly important for regulatory decision‑making and health technology assessments (HTAs), but current risk-of-bias (RoB) tools are not specifically tailored to assess biases central to TTE studies-such as immortal time bias, misaligned eligibility criteria, and prevalent user bias. RoB assessment for TTE studies thus remains difficult, and it is unclear which tools and adaptations researchers currently use or how well they work.This study aims to analyze the RoB assessment of TTE studies at regulatory and policy decision points along the medical product life cycle by providing a systematic overview of tools developed, used, adapted, or evaluated for TTE studies and the perceived importance and feasibility of assessing TTE studies by HTA assessors, regulators, systematic reviewers, and methods experts.This is a protocol for a scoping review and online survey among systematic reviewers, methods experts, European HTA organizations, and regulators. [...]

The exact disease-causing mechanisms in ALS remain incompletely understood. A possible cause is inflammation of neurons. [...]

Spinocerebellar ataxia type 3 (SCA3), also called Machado-Joseph disease, the most common form of autosomal dominant cerebellar ataxia, is caused by a CAG repeat expansion in ATXN3. The mutant protein is prone to aggregation and exerts toxic gain-of-function effects, whereas the wild-type protein has important neuroprotective roles as a deubiquitinase. [...]

Over the past few years, several fluid biomarker candidates have been proposed for frontotemporal dementia (FTD). We have previously identified CSF proteins that could separate individuals with genetic FTD from controls. [...]

Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient-centered care domains, as well as their impact on these domains. [...]