A5035938203- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Genomics and Rare Diseases
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Ginkgo biloba and Cashew Applications
- RNA and protein synthesis mechanisms
- Genetic Neurodegenerative Diseases
- Banana Cultivation and Research
- Autophagy in Disease and Therapy
- Neuroinflammation and Neurodegeneration Mechanisms
- EEG and Brain-Computer Interfaces
- Cellular transport and secretion
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Diabetes Treatment and Management
- Congenital heart defects research
- Voice and Speech Disorders
- Sleep and Wakefulness Research
- Clinical Nutrition and Gastroenterology
- Diet and metabolism studies
- Skin and Cellular Biology Research
- Tryptophan and brain disorders
Univerzitná Nemocnica Louisa Pasteura
2021-2025
University of Pavol Jozef Šafárik
2018-2025
Objective To apply a machine learning analysis to clinical and presynaptic dopaminergic imaging data of patients with rapid eye movement (REM) sleep behavior disorder (RBD) predict the development Parkinson disease (PD) dementia Lewy bodies (DLB). Method s In this multicenter study International RBD group, 173 (mean age 70.5 ± 6.3 years, 70.5% males) polysomnography‐confirmed who eventually phenoconverted overt alpha‐synucleinopathy (RBD due synucleinopathy) were enrolled, underwent baseline...
Abstract Background Leucine‐rich repeat kinase 2 ( LRRK2 ) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown. Objective The aim to evaluate the frequency phenotype of in early‐onset PD (EOPD) familial compared healthy controls (HC) Central Europe. Methods Whole‐exome sequencing used screen 219 EOPD patients Europeans HC. Sanger assessed segregation. Detailed clinical evaluated all positive...
Abstract Background Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives We sought to validate a recently introduced scoring algorithm dystonia, predicting diagnostic utility whole‐exome sequencing (WES) based on individual phenotypic aspects (age‐at‐onset, body distribution, presenting comorbidity). Methods prospectively enrolled set 209 dystonia‐affected families and obtained summary scores (0–5 points)...
Protein synthesis is a tightly controlled process, involving host of translation-initiation factors and microRNA-associated repressors. Variants in the translational regulator EIF2AK2 were first linked to neurodevelopmental-delay phenotypes, followed by their implication dystonia. Recently, de novo variants EIF4A2, encoding eukaryotic translation initiation factor 4A isoform 2 (eIF4A2), have been described pediatric cases with developmental delay intellectual disability.We sought...
Background. An increased prevalence of Parkinson’s disease (PD) has been previously reported in subjects with Fabry (FD) carrying alpha-galactosidase (GLA) mutations and their first-line relatives. Moreover, decreased A (AGLA) enzymatic activity among cases PD compared to controls. Objective. The aim our study was determine the FD patients PD. Methods. We recruited 236 consecutive from February 2018 December 2020. Clinical sociodemographic data, including MDS-UPDRS-III scores HY stage (the...
Background: To date, no studies comparing complication rates between patients with nutritional percutaneous endoscopic gastrostomy (N-PEG) and Parkinson's disease (PD) gastro-jejunostomy (JET-PEG) for treatment administration have been published. Our study aimed to compare the number of re-endoscopies N-PEG JET-PEG patients. Methods: Individuals requiring or insertion 2014 2021 were included in this single-center retrospective observational study. Complications divided into time-related...
Pathogenic variants in
Abstract Background Parkinson’s disease (PD) is characterized by the accumulation of alpha-synuclein (aSyn) pathology, not only in brain but also gastrointestinal (GI) tract. This study investigates use unique aSyn antibodies and an seed amplification assay (SAA) for detecting pathological rectal biopsy samples from PD patients healthy individuals. These were preserved using formalin-fixed paraffin-embedded (FFPE) methods. Materials Methods The analyzed seeding capacity FFPE submucosal...
Abstract Parkinson’s disease is a progressive neurodegenerative disorder and idiopathic REM-sleep behaviour (iRBD) has been identified as its single most specific early symptom. To facilitate the screening of individuals at high risk to develop disease, we developed multiplexed panel urine proteomics using machine learning targeted mass spectrometry detect iRBD. Random samples from clinically genetically well characterized patients with iRBD, hereditary forms matching controls, collected in...