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Rare damaging variants in the SLC25A46 gene were recently reported to be associated with optic atrophy and parkinsonism in compound heterozygous state. Here, we comprehensively investigated the role of SLC25A46 variation in idiopathic Parkinson's disease (PD) by leveraging whole genome sequencing (WGS) and genotyping imputed data from the Global Parkinson's Genetics Program (GP2) and the Accelerating Medicines Partnership for Parkinson's disease initiative (AMP-PD). [...]

In a cohort of persons with chronic coronary syndrome, we investigated associations of blood-based biomarkers of neurodegenerative diseases with cognitive scores and mild cognitive impairment (MCI) after ten years. Biomarker levels were measured in baseline samples of serum (glial fibrillary acid protein, neurofilament light chain (NfL), phosphorylated tau181; n = 363) or plasma (amyloid-β42/40-ratio, total-tau; n = 232). [...]

Neuroinflammation plays a vital role in determining the trajectory of Alzheimer's disease (AD) progression. In the AD brain, microglial exposure to pathological amyloid β (Aβ42) and tau peptide aggregates results in an NLRP3 inflammasome-activated proinflammatory response that ranges from mild to severe. [...]

Host defense functions of neutrophils during infection critically depend on microbicidal and proteolytic proteins stored in primary, secondary, and tertiary granules that are released into the phagosome or into the extracellular space upon degranulation. Granules are generated during granulopoiesis, and impaired granule production or granule protein sorting has been linked to inefficient pathogen clearance resulting in recurrent bacterial and fungal infections. [...]

Directly compare the brain glucose patterns seen with [F-18] fluorodeoxyglucose (FDG) positron emission tomography (PET) between 2 genetically determined forms of Alzheimer's disease: Down syndrome (DS) and autosomal dominant Alzheimer's disease (ADAD).Cross-sectional analyses of FDG were performed in individuals with DS (n = 76) from the Alzheimer Biomarker Consortium-Down Syndrome (ABC-DS), ADAD (n = 297), and neurotypical familial controls (n = 188) from the Dominantly Inherited Alzheimer Network (DIAN). Within-group linear regression models and generalized additive models were performed for select regional FDG uptake measures (isthmus cingulate and inferior parietal, precuneus, middle temporal gyrus, and precentral gyrus). [...]

Neuroimaging is a prerequisite for treatment of stroke patients, but it is not available all over the globe. Portable ultra-low field (pULF) MRI has the potential to improve access to neuroimaging and thus stroke care worldwide. [...]

Predicting functional outcomes following endovascular treatment (EVT) for large-vessel occlusion stroke (LVOS) is challenging. Some patients achieve functional independence (modified Rankin Scale (mRS) 0 -2) at 90 days despite being dependent at discharge, termed delayed functional independence (DFI), while others lose independence after discharge, termed delayed functional dependence (DFD). [...]

In Alzheimer's disease (AD), fibrillar tau pathology is a key driver of neurodegeneration and cortical atrophy. Yet, emerging evidence suggests that tau aggregates also contribute to white matter (WM) damage. [...]

Digital biomarkers show significant potential and are emerging as outcome measures in clinical trials in spastic ataxias (SPAX). Research on the performances of digital biomarkers in home environments remains limited.To evaluate feasibility, user adherence, time-of-day and learning effects, and consistency across settings of the SPAX-app for home monitoring in clinical trials. [...]

Serum glial fibrillary acidic protein (GFAP) is a biomarker for astrocytic injury and astrogliosis. Concentrations are elevated in numerous neurological disorders, including a pronounced increase in Alzheimer disease (AD). [...]