Publicaties

ATP10B is a lysosomal P-type adenosine triphosphatase (ATPase) known for translocating glucosylceramide (GluCer) and phosphatidylcholine (PC) from the inside to the outside of the lysosomal membrane. Compound heterozygous mutations affecting ATP10B protein activity have been identified in a small subset of patients with Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Several genetic studies have since explored whether mutations in ...

Preclinical animal models are indispensable for uncovering disease mechanisms and developing novel therapeutic interventions in synucleinopathies. Key readouts including neuronal cell death, neuroinflammation and alpha-synuclein protein aggregation, are routinely assessed by histological methods. However, traditional characterization of histological samples is labor-intensive and time-consuming. There is a growing need for reproducible and ...

BACKGROUND: Freezing of Gait (FOG) is a severe symptom of Parkinson’s Disease (PD) that affects mobility and quality of life. The ‘Characterizing Freezing of Gait Questionnaire’ (C-FOG) is an assessment tool for screening and determining subtypes of FOG. However, it currently only exists in the English language. This study aimed to translate the C-FOG from English to German METHODOLOGY: This project was conducted from September 2024 to February ...

Parkinson's disease (PD) is the most common neurodegenerative motor disorder. No therapy can cure, stop or slow down the progression of the disease, as only symptomatic treatment strategies are available. Identifying pathogenic mechanisms underlying neurodegeneration will therefore be essential to develop a disease-modifying drug. PD is characterized by the loss of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNpc) and the ...

Aggregated α-synuclein (αSyn) is a pathological hallmark of Parkinson's disease (PD), yet other protein aggregates, including tau, are commonly observed in PD brains. This suggests that PD is not solely a synucleinopathy but may involve multiple, coexisting proteinopathies. Mutations in LRRK2, particularly the G2019S (GS), are the most common cause of familial PD. LRRK2-PD has been associated with both αSyn and tau pathology; however the ...

The worldwide incidence of type 1 diabetes continues to rise at an alarming rate. One hundred years after the introduction of insulin, the long-entertained hope of moving from symptomatic treatment to disease-modifying therapies is finally taking shape with regulatory approval of teplizumab to delay the onset of stage 3 disease. Here we review teplizumab's mechanism of action, setting it against the background of emerging disease-modifying ...

PURPOSE: [11C]CHDI-00485180-R ([11C]CHDI-180R) is a novel PET radioligand developed to image aggregated mutant huntingtin (mHTT). Data from mouse models of Huntington's disease (HD) and biodistribution studies in healthy volunteers suggested that [11C]CHDI-180R is a promising candidate for in vivo determination of cerebral aggregated mHTT levels using PET. In the iMagemHTT study reported here, we investigated [11C]CHDI-180R kinetic properties ...

Traditional clinical assessments in Parkinson's disease (PD) trials are limited by subjectivity and inter-rater variability. Digital health technologies (DHT) offer an objective continuous assessment of motor symptoms and are increasingly used in clinical research. This review evaluated the role of DHTs as outcome tools in pharmacological trials for PD. A systematic search of MEDLINE and Embase was conducted according to PRISMA (Preferred ...

The p.D620N mutation in VPS35 causes an autosomal dominant form of Parkinson's disease via mechanisms that are poorly understood. PINK1 and parkin, two proteins whose loss of function underlies autosomal recessive Parkinson's disease, cooperate to mediate mitophagy, a quality control pathway for selective elimination of damaged mitochondria. PINK1/parkin-mediated mitophagy is disrupted by LRRK2 mutations, which are the most prevalent cause of ...