Full Text Collection

Despite evidence of early neurodegeneration, postural instability is commonly associated with later stages of Parkinson's disease (PD), mainly due to a lack of sensitive measures. Here, we aim to provide a sensitive, easily obtainable objective measure of postural instability for earlier clinical detection. [...]

We investigated the role of copy number variations (CNVs) in Parkinson's disease (PD) using genotyping data from 10,815 patients (2731 early-onset PD, EOPD) and 8901 controls from the COURAGE-PD consortium. CNVs were analyzed using a sliding window genome-wide association and burden approach. [...]

Colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) is a rare, progressive, fatal neurodegenerative disorder caused by pathogenic CSF1R gene variants, resulting in microglial dysfunction and neurodegeneration. In patients with CSF1R-ALSP, brain magnetic resonance imaging (MRI) shows early white matter lesions followed by brain atrophy accompanied by progressive cognitive, neuropsychiatric, and motor dysfunction. [...]

The pathogenesis of Parkinson's disease is multifactorial, but disruption of calcium and iron is a common feature. The mitochondrial Rho GTPase Miro1 is a component of the mitochondrial-endoplasmic reticulum contact sites and a key regulator of calcium homeostasis. [...]

Synaptoporin (SPO; synaptophysin II) has classically been described as a presynaptic vesicle protein enriched in the hippocampal mossy fiber pathway, distinguishing it from the ubiquitously expressed synaptophysin I (SYP). However, its distribution and synapse-type specificity in the human brain have not been studied yet. [...]

Animal lifespan depends on coordinated gene expression networks that regulate metabolic adaptation, proteostasis, and stress resilience in response to environmental challenges. Histone variants are key regulators of chromatin dynamics, orchestrating nucleosome remodeling, DNA accessibility, and gene expression. [...]

Benzodiazepines act as positive allosteric modulators of the GABAA receptor and affect several motor and cognitive functions. By engaging perceptual-motor as well as inhibitory control processes, the antisaccade task was used in previous studies to investigate effects of benzodiazepines on behavioral performance. [...]

Following a cerebrovascular event, the associated risks for further major adverse cerebro- and cardiovascular events and death (MACE) and important aspects of cognitive, mental and patient-reported outcomes are currently not understood, particularly long-term. Here, we present the study design of the ongoing Berlin Long-term Observation of Vascular Events (BeLOVE) stroke stratum and report data of the first study phase.BeLOVE is a prospective, longitudinal, observational, hospital-based cohort study. [...]

Brain maintenance - the preservation of brain structure or function relevant to cognitive performance - remains challenging to quantify. Here, we propose a domain-general brain maintenance index derived by jointly modelling the longitudinal co-evolution of ageing-related atrophy (via medial temporal lobe to ventricle ratio, MTLV-ratio), white matter hyperintensities (WMH), and global cognition assessed by the preclinical Alzheimer's cognitive composite (PACC5) using latent growth curve modelling. [...]

The number of dementia cases is expected to rise in ageing societies with concomitant requirements for healthcare planning. While national figures for countries are widely available, subnational regional heterogeneity is rarely considered. [...]