Wolfgang H. Oertel
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View article: Serum p‐tau217 Is a Prognostic Indicator of Cognitive Impairment in Idiopathic <scp>REM</scp> Sleep Behavior Disorder
Serum p‐tau217 Is a Prognostic Indicator of Cognitive Impairment in Idiopathic <span>REM</span> Sleep Behavior Disorder Open
Objective Assess the performance of serum phosphorylated tau 217 (p‐tau217) and neurofilament light chain (NfL) in predicting risk of cognitive impairment or phenoconversion to dementia in individuals with iRBD. Methods We measured serum p…
View article: Dermal Alpha‐Synuclein Aggregation in Seed Amplification Assays for Parkinson's Disease Subtype Differentiation
Dermal Alpha‐Synuclein Aggregation in Seed Amplification Assays for Parkinson's Disease Subtype Differentiation Open
Background Skin biopsies and seed amplification assays (SAA) provide a sensitive and potentially quantitative method to detect alpha‐synuclein (a‐syn) aggregation in peripheral nerve fibers in Parkinson's disease (PD). Relating to the prev…
View article: Deceleration Capacity as a Marker of Autonomic Cardiac Modulation in Prodromal and Manifest Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy
Deceleration Capacity as a Marker of Autonomic Cardiac Modulation in Prodromal and Manifest Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy Open
Background Degenerative parkinsonian syndromes, including the alpha‐synucleinopathies ( aSYN ) Parkinson's disease ( PD ), and multiple system atrophy ( MSA ), and the tauopathy progressive supranuclear palsy ( PSP ), are characterized by …
View article: Integrated multi-omics highlights alterations of gut microbiome functions in prodromal and idiopathic Parkinson’s disease
Integrated multi-omics highlights alterations of gut microbiome functions in prodromal and idiopathic Parkinson’s disease Open
Background Parkinson’s disease (PD) is associated with gut microbiome shifts. These shifts are mainly described at taxonomic level, but the functional consequences remain unclear. To obtain insight into the functional disruptions of the gu…
View article: Patient‐Derived Neurons Exhibit α‐Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex <scp>Class</scp> I Elevation in Mitochondrial Membrane Protein–Associated Neurodegeneration
Patient‐Derived Neurons Exhibit α‐Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex <span>Class</span> I Elevation in Mitochondrial Membrane Protein–Associated Neurodegeneration Open
Background Mitochondrial membrane protein–associated neurodegeneration (MPAN) from the neurodegeneration with brain iron accumulation (NBIA) family is a rare neurodegenerative disease marked by α‐synuclein aggregation, brain iron accumulat…
View article: Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links
Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links Open
Objective To explore potential genetic and/or causal associations between Post-Traumatic Stress Disorder and neurodegeneration-related isolated/idiopathic rapid-eye-movement sleep behavior disorder. Methods We conducted polygenic risk scor…
View article: Copy Number Variation and Haplotype Analysis of <scp>17q21.31</scp> Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells
Copy Number Variation and Haplotype Analysis of <span>17q21.31</span> Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells Open
Background The 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP). Objective To inve…
View article: Saccade, pupil, and blink abnormalities in prodromal and manifest alpha-synucleinopathies
Saccade, pupil, and blink abnormalities in prodromal and manifest alpha-synucleinopathies Open
Background Saccade, pupil, and blink control are impaired in patients with α-synucleinopathies (αSYN): Parkinson's disease (PD) and multiple system atrophy (MSA). Isolated REM (rapid eye movement) Sleep Behavior Disorder (iRBD) is a prodro…
View article: Lack of epistatic interaction of <i>SNCA</i> with <i>APOE</i> in synucleinopathies
Lack of epistatic interaction of <i>SNCA</i> with <i>APOE</i> in synucleinopathies Open
Two recent studies suggested that the APOE ε4 haplotype was associated with increased α-synuclein pathology in cell and mouse models. Genetic variants in the SNCA region have strong association with Parkinson’s disease (PD), dementia with …
View article: Integrated multi-omics highlights alterations of gut microbiome functions in prodromal and idiopathic Parkinson’s disease
Integrated multi-omics highlights alterations of gut microbiome functions in prodromal and idiopathic Parkinson’s disease Open
Summary Parkinson’s disease (PD) is associated with gut microbiome shifts, but the functional consequences remain unclear. Here, we use an integrated multi-omics approach to compare the gut microbiomes of individuals with PD and prodromal …
View article: Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and<i>MAPT</i>Sub-haplotypes
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and<i>MAPT</i>Sub-haplotypes Open
Importance The chromosome 17q21.31 region, containing a 900 Kb inversion that defines H1 and H2 haplotypes, represents the strongest genetic risk locus in progressive supranuclear palsy (PSP). In addition to H1 and H2, various structural f…
View article: The comorbidity profiles and medication issues of patients with multiple system atrophy: a systematic cross-sectional analysis
The comorbidity profiles and medication issues of patients with multiple system atrophy: a systematic cross-sectional analysis Open
Background Multiple system atrophy (MSA) is a complex and fatal neurodegenerative movement disorder. Understanding the comorbidities and drug therapy is crucial for MSA patients’ safety and management. Objectives To investigate the pattern…
View article: Enhanced firing of locus coeruleus neurons and SK channel dysfunction are conserved in distinct models of prodromal Parkinson's disease
Enhanced firing of locus coeruleus neurons and SK channel dysfunction are conserved in distinct models of prodromal Parkinson's disease Open
Background and Purpose: Parkinson’s disease (PD) is clinically defined by the presence of the cardinal motor symptoms, which are associated with a loss of dopaminergic nigrostriatal neurons in the substantia nigra pars compacta (SNpc). Whi…
View article: Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy Open
Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP…
View article: α-Synuclein pathology disrupts mitochondrial function in dopaminergic and cholinergic neurons at-risk in Parkinson’s disease
α-Synuclein pathology disrupts mitochondrial function in dopaminergic and cholinergic neurons at-risk in Parkinson’s disease Open
Background Pathological accumulation of aggregated α-synuclein (aSYN) is a common feature of Parkinson’s disease (PD). However, the mechanisms by which intracellular aSYN pathology contributes to dysfunction and degeneration of neurons in …
View article: Neuronally Derived Extracellular Vesicle α-Synuclein as a Serum Biomarker for Individuals at Risk of Developing Parkinson Disease
Neuronally Derived Extracellular Vesicle α-Synuclein as a Serum Biomarker for Individuals at Risk of Developing Parkinson Disease Open
IMPORTANCE Nonmotor symptoms of Parkinson disease (PD) often predate the movement disorder by decades. Currently, there is no blood biomarker to define this prodromal phase. OBJECTIVE To investigate whether α-synuclein in neuronally derive…
View article: Reduced Gastric Contraction in Rapid‐Eye‐Movement Sleep Behavior Disorder and <i>De Novo</i> Parkinson's Disease
Reduced Gastric Contraction in Rapid‐Eye‐Movement Sleep Behavior Disorder and <i>De Novo</i> Parkinson's Disease Open
Background Reduced gastric motility in Parkinson's disease (PD) has been reported, but hardly any study exists in subjects with isolated rapid‐eye‐movement (REM) sleep behavior disorder (iRBD), a specific prodrome of α‐synucleinopathies. O…