Documents in Process

Background: Parkinson Disease (PD) is a progressive neurodegenerative disorder. Current therapeutic trials investigate treatments that can potentially modify the disease course. [...]

Parkinson's disease (PD) exhibits substantial phenotypic variability, likely influenced, at least in part, by proteins associated with pathways integral to aging processes. Plasminogen activator inhibitor-1 (SERPIN E1) is known for its association with aging processes and exacerbated α-Synuclein pathology. [...]

We previously identified seven distinct multimorbidity clusters associated with major depressive disorder through a comprehensive analysis of 1.2 million individuals of multiple cohorts. These clusters, characterized by unique clinical, genetic, and psychiatric and somatic illness risk profiles, implicate divergent treatment pathways and disease management strategies. [...]

Obsessive-compulsive disorder (OCD) affects ~1% of children and adults and is partly caused by genetic factors. We conducted a genome-wide association study (GWAS) meta-analysis combining 53,660 OCD cases and 2,044,417 controls and identified 30 independent genome-wide significant loci. [...]

Clinical staging in individuals with Alzheimer's disease (AD) typically relies on neuropsychological testing. Recognizing the imperative for an objective measure of clinical AD staging, regional perfusion in early-phase β-amyloid-PET may aid as a cost-efficient index for the assessment of neurodegeneration severity in patients with Alzheimer's disease.Regional perfusion deficits in early-phase β-amyloid-PET as well as neuropsychological testing (max. [...]

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by ataxia, sensory loss and pyramidal signs. While the majority of FRDA cases are caused by biallelic GAA trinucleotide repeat expansions in intron 1 of FXN, there is a subset of patients harboring a heterozygous pathogenic small variant compound-heterozygous with a GAA repeat expansion. [...]

Immune-related neuropathy (irNeuropathy) and myositis (irMyositis) are the most common neurologic adverse events (irAE-n) associated with immune checkpoint inhibitors. Although case reports suggest benefits of complement inhibitors, the role of complement activation in irAE-n is understudied.In a retrospective multicenter study, we enrolled patients with irNeuropathy or irMyositis, cancer controls (CCs), and healthy controls (HCs). [...]

Misfolding and aggregation of alpha-synuclein (αSyn) play a key role in the pathophysiology of Parkinson's disease (PD). Despite considerable advances in diagnostics, an early and differential diagnosis of PD still represents a major challenge. [...]

This study aims to report human performance in the detection of Focal Cortical Dysplasias (FCDs) using an openly available dataset. Additionally, it defines a subset of this data as a 'difficult' test set to establish a public baseline benchmark against which new methods for automated FCD detection can be evaluated.The performance of 28 human readers with varying levels of expertise in detecting FCDs was originally analyzed using 146 subjects (not all of which are openly available), we analyzed the openly available subset of 85 cases. [...]

Subthalamic beta oscillations are a biomarker for bradykinesia and rigidity in Parkinson's disease (PD), incorporated as a feedback signal in adaptive deep brain stimulation with potential for guiding electrode contact selection. Understanding their longitudinal stability is essential for successful clinical implementation.We aimed to analyze the long-term dynamics of beta peak parameters and beta power distribution along electrodes.We recorded local field potentials from 12 channels per hemisphere of 33 PD patients at rest, in a therapy-off state at two to four sessions (0, 3, 12, 18-44 months) post-surgery. [...]