Documents in Process

Recent studies have demonstrated that eye tracking is a valuable tool in the detection, classification and staging of neurodegenerative diseases such as Parkinson's Disease (PD). However, traditional methods for capturing gaze data often rely on expensive and non-engaging clinical equipment such as video-oculography, limiting their accessibility and scalability. [...]

Antipsychotic drugs are the established treatment for acute schizophrenia but differ in receptor-binding profiles. In 2024, a new-in-class muscarinic receptor agonist (xanomeline-trospium) was licenced, acting upstream of antidopaminergic agents, and providing hope to decrease the adverse effects burden of antipsychotics. [...]

Idiopathic achalasia (IA) is characterised by the degeneration of neurons in the myenteric plexus leading to an irreversible impaired oesophageal function. Although immune-mediated mechanisms have been proposed, the underlying aetiopathology of IA remains poorly understood.This study aimed to uncover the genetic risk architecture of IA.We carried out the first genome-wide association study (GWAS) on 4602 European patients with IA and 10 766 ethnically-matched controls.A single nucleotide polymorphism (SNP) in HLA-DQB1 leading to an 8-amino acid insertion on the protein level conferred strongest IA risk (PQGPPPAG: p=3.27×10-68, OR=2.45). [...]

Recent studies demonstrated strong agreement between early-phase β-amyloid-PET perfusion imaging and glucose hypometabolism assessed by [18F]FDG-PET, indicating the potential of early-phase β-amyloid-PET as a surrogate biomarker of neuronal injury. We therefore aimed to investigate the additive value of early-phase β-amyloid-PET for the differential diagnosis of non-Alzheimer's disease dementia syndromes in clinical routine.[18F]florbetaben- and [18F]flutemetamol-PET scans (n = 379) performed between July 2013 and July 2021 were analyzed for their amyloid status and the presence of a neurodegenerative hypoperfusion pattern using visual assessment and z-score maps. [...]

The spatial organization of viral and cellular proteins shapes signal transduction. Here, we present a protocol to quantify differential protein-protein interactions by measuring their spatial association using proximity ligation assays (PLAs). [...]

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small-vessel disease. The CADASIL MRI Inventory Tool summarizes individual MRI findings as simple, type-specific lesion levels. [...]

Imaging studies showed early atrophy of the cholinergic basal forebrain (BF) already at prodromal stages of sporadic Alzheimer's disease (AD). Women and carriers of the ApoE epsilon 4 (ApoE ε4) allele are more likely to develop the disease; however, the underlying mechanisms are still unclear. [...]