German Center for Neurodegenerative Diseases

Hypoxia-inducible factor 2α does not regulate cortical brain development

Dynamic changes in physiological oxygen levels are crucial for proper cortical brain development. In this context, oxygen is important not only for its role in energy metabolism but also as a signaling molecule. While much is already known about its most prominent signaling facto...

Accelerated forgetting in memory clinic patients with subjective cognitive decline: Results from a 7-day follow-up long-term retrieval assessment

BackgroundSubjective cognitive decline (SCD) is recognized as an early indicator of preclinical Alzheimer's disease (AD). However, individuals with SCD do not exhibit cognitive impairment on standard neuropsychological tests. Accelerated forgetting (AF) has been reported in indiv...

Automated SSIM regression for detection and quantification of motion artefacts in brain MR images

Abstract Motion artefacts in magnetic resonance brain images can have a strong impact on diagnostic confidence. The assessment of MR image quality is fundamental before proceeding with the clinical diagnosis. Motion artefacts can alter the delineation of structures such as the br...

The global cost of schizophrenia: a health economic modelling study

Abstract Background Schizophrenia is a chronic psychiatric disorder that leads to substantial disability, impaired quality of life, and reduced life expectancy. In addition to its profound impact on affected individuals, the disorder places a considerable financial burden on heal...

Clinical Global Impression-Stimulation Outcome Monitoring Tool (CGI-STIM): development and preliminary evaluation of a pragmatic clinical rating tool for electroconvulsive therapy

Abstract Objectives Electroconvulsive therapy (ECT) is highly effective for severe and treatment-resistant mental disorders, but concerns about cognitive side effects and enduring stigma continue to hinder its broader acceptance. Although treatment response and cognitive tolerabi...

Diagnosing autoimmune encephalitis in psychiatry: clinical recommendations and unresolved challenges from the GENERATE network

Psychiatric syndromes can be caused by underlying autoimmune encephalitis (AE). This represents a diagnostic challenge at the interface of psychiatry and neurology. While AE mostly manifests with a combined, complex neuropsychiatric syndrome, some patients with AE may (initially)...

Allocation of TSPO-PET signals to cellular and extracellular compartments in dependence of blood-brain barrier disruption in experimental glioblastoma

BACKGROUND: Translocator protein (TSPO)-PET imaging facilitates monitoring of glioblastoma in preclinical models and patients. However, specificity of TSPO-PET signals remains to be investigated. In this study, we aimed to decipher exact contributions of cellular and extracellula...

Unprecedented In Vivo MRI Resolution of Basal Ganglia at 11.7 T

This case report describes 11.7-T in vivo human brain magnetic resonance imaging (MRI) of the basal ganglia in 2 healthy volunteers.

Neuroradiologic Findings in Patients With S CN2A Disease

SCN2A disease spans a broad clinical spectrum from self-limited (familial) neonatal-infantile epilepsy to severe developmental and epileptic encephalopathies. Systematic characterization of the spectrum of neuroradiologic abnormalities in SCN2A disease has not been performed. Thi...

Cyclosporin A triggers a RIG-I-mediated interferon response through multiple cellular processes

Abstract The development of broad-spectrum antiviral agents is essential for preparedness against emerging viruses with pandemic potential. Cyclosporin A (CsA), a clinically approved immunosuppressant, has been shown to exert antiviral activity against a wide range of viruses. Re...

Dystonia 3×3: A Training Guideline for Beginners in Botulinum Neurotoxin Treatment of Cervical Dystonia

Cervical dystonia (CD) is a hyperkinetic movement disorder characterized by involuntary muscle contractions leading to abnormal postures of the head and neck. The injection of botulinum neurotoxin type A (BoNT-A) into the muscles involved is the treatment of choice for CD. BoNT-A...

NLRP3 Regulation in Neonatal Hypoxic–Ischemic Encephalopathy—Focus on Microglial Activation

Neonatal hypoxic–ischaemic encephalopathy (HIE) is a major cause of neonatal mortality and long-term neurological disability, affecting 1–3 per 1000 live births in developed countries and occurring at substantially higher rates in developing countries. Neuroinflammation is a key...

9.4‐Tesla magnetic resonance imaging in focal epilepsy patients with high‐resolution surface‐based profiling of focal cortical dysplasias

Abstract Objective The detection of subtle epileptogenic lesions such as focal cortical dysplasias (FCDs) is a clinical challenge in the management of drug‐resistant focal epilepsy (DRFE). Ultra‐high‐field (UHF) magnetic resonance imaging (MRI) offers increased signal‐to‐noise ra...

Deep FLASH-seq profiling of purified canine sensory neurons uncovers species-specific signatures relevant to pain and itch

ABSTRACT: Naturally occurring pain and itch disorders in the domestic dog represent an important and underexploited opportunity for translational sensory neuroscience. These conditions largely mirror human disease, highlighting the need for detailed comparative understanding of c...

Process evaluation of the randomized trial—“Care management for older people with cognitive impairment during and after hospitalisation in Germany (intersec-CM)”

Abstract Background Effective care of people with cognitive impairment and their families depends, among other things, on the cooperation of the professionals involved in their care. An effective dementia care management support model for people with dementia and their families f...

Could NQO1 genotypes impact the results of clinical trials with idebenone?

Carelli et al. argue that new insights into how NQO1 influences the response to idebenone warrant reevaluating the results of previous clinical trials, including those in Friedreich ataxia and Duchenne muscular dystrophy, using patient stratification by NQO1 genotype.

Association of self-reported hearing loss and tinnitus with brain structure and cognitive function: a population-based cross-sectional analysis from the Study of Health in Pomerania (SHIP)

Abstract Background Hearing loss has been reported as a major, potentially modifiable risk factor for dementia and often co-occurs with tinnitus. Both conditions are prevalent and have been linked to brain health and cognitive decline. However, evidence from studies containing th...

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

Background Spinocerebellar Ataxia 27B (SCA27B) is a novel, frequent and likely treatable late-onset autosomal-dominant ataxia caused by GAA repeat-expansions in FGF14 . For understanding disease evolution and imminent trial planning, metrics of the most widely used clinical outco...

CX3CR1 Modulates Migration of Resident Microglia Towards Cortical Laser‐Induced Lesions

Microglia are innate immune cells of the central nervous system (CNS). They extend their processes and migrate toward injuries in vivo. However, how the fractalkine receptor (CX3CR1) influences microglial migration remains unknown. Label-free proteomic profiling predicted changes...

PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures

We developed a high-content screening to investigate how Alzheimer’s disease (AD) genetic risk factors may affect synaptic mechanisms in rat primary neuronal cultures. Of the target genes identified, we found that Plcg2 downregulation in mouse dentate gyrus neurons consistently d...