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2025-06-16
14:22
pmc [DZNE-2025-00724] Journal Article
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Feasibility of an App-Assisted and Home-Based Video Version of the Timed Up and Go Test for Patients with Parkinson Disease: vTUG.
Journal of Clinical Medicine 14(11), 3769 () [10.3390/jcm14113769] special issue: "Digital Health Technologies in Parkinson’s Disease and Related Disorders"
Background: Parkinson Disease (PD) is a progressive neurodegenerative disorder. Current therapeutic trials investigate treatments that can potentially modify the disease course. [...]

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2025-06-16
14:20
DBCoverage [DZNE-2025-00723] Journal Article
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Elevated cerebrospinal fluid levels of SERPIN E1 in participants with lewy body diseases.
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. [...]

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2025-06-16
14:05
[DZNE-2025-00722] Journal Article
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Pharmacological profiling of major depressive disorder-related multimorbidity clusters.
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. [...]

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2025-06-16
14:04
pmc [DZNE-2025-00721] Journal Article
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Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.
Nature genetics 57(6), 1389 - 1401 () [10.1038/s41588-025-02189-z]
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. [...]

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2025-06-13
15:45
[DZNE-2025-00720] Journal Article
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Correlation of early-phase β-amyloid positron-emission-tomography and neuropsychological testing in patients with Alzheimer's disease.
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. [...]

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2025-06-13
15:42
[DZNE-2025-00719] Journal Article
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Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.
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. [...]

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2025-06-13
15:40
[DZNE-2025-00718] Journal Article
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Complement activation profiles in patients with immune checkpoint inhibitor-associated neuromuscular immune-related adverse events.
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). [...]

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2025-06-13
15:34
DBCoverage [DZNE-2025-00717] Journal Article
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Alpha-synuclein misfolding as fluid biomarker for Parkinson's disease measured with the iRS platform.
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. [...]

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2025-06-13
15:33
DBCoverage [DZNE-2025-00716] Journal Article
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A public benchmark for human performance in the detection of focal cortical dysplasia.
Epilepsia open 10(3), 778 - 786 () [10.1002/epi4.70028]
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. [...]

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2025-06-13
15:26
pmc [DZNE-2025-00715] Journal Article
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Long-Term Stability of Spatial Distribution and Peak Dynamics of Subthalamic Beta Power in Parkinson's Disease Patients.
Movement disorders 40(6), 1070 - 1084 () [10.1002/mds.30169]
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. [...]

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