A5001474641- Neurological disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Neurological and metabolic disorders
- Botulinum Toxin and Related Neurological Disorders
- Advanced Neuroimaging Techniques and Applications
- Genomics and Rare Diseases
- Diet and metabolism studies
- Gut microbiota and health
- Functional Brain Connectivity Studies
- Metabolism and Genetic Disorders
University Medical Center Groningen
2017-2025
University of Groningen
2017-2025
Children and adolescents with SGCE-myoclonus dystonia showed a progression of motor symptoms during mean follow-up 4 years. Patients developed significant increase in the severity axial limb myoclonus, as well writing. Consequently, patients reported marked decline their speech, writing, walking abilities. Up to 74% had psychiatric diagnosis, most commonly anxiety, obsessive-compulsive disorders, attention-deficit/hyperactivity disorder.
Abstract Background Myoclonus‐dystonia syndrome (MDS) is a genetic movement disorder with childhood‐onset, most frequently caused by SGCE defects. Objective To evaluate the diagnostic and treatment strategies in MDS used experts from European Reference Network for rare neurological diseases (ERN‐RND), to assess diagnosis management experience patients MDS. Methods Two different questionnaires were distributed: one among neurologists ERN‐RND, another families ‐related Results Twenty‐nine...
Objectives: North Sea–Progressive Myoclonus Epilepsy (NS‐PME) is a rare, childhood‐onset disorder primarily characterized by movement disorders including progressive myoclonus and ataxia; subsequently accompanied varying degrees of epilepsy. While motor symptoms are clearly defined, quality life (QoL) has never been investigated in NS‐PME. Additionally, nonmotor (NMS) anxiety, depression, cognitive problems known to impact QoL increasingly being reported other disorders. Hence, we examined...
Currently, the pathophysiology of myoclonus-dystonia (M-D) remains insufficiently understood. This study addresses this gap by adding innovative multivariate pattern analysis (MVPA) to traditional univariate functional magnetic resonance imaging (fMRI) data. Data from 18 M-D patients and age-matched healthy volunteers who performed a finger tapping fMRI task were analyzed. Whole-brain searchlight with varying hemodynamic response function (HRF) delays employed examine brain responses...
Abstract Aim To investigate the natural progression of SGCE ‐associated myoclonus dystonia from symptom onset in childhood to early adulthood. Method Myoclonus and were monitored using rating scales two cohorts participants Spain Netherlands. Individual annualized rates change calculated longitudinal trends assessed Bayesian mixed models. Psychiatric features evaluated cross‐sectionally Spanish cohort. Results Thirty‐eight patients (21 males, 17 females) at a mean age (SD) 10 years (4 7...
In dystonia, dopaminergic alterations are considered to be responsible for the motor symptoms. Recent attention highly prevalent non-motor symptoms suggest also a role serotonin in pathophysiology. this study we investigated dopaminergic, serotonergic and noradrenergic metabolism blood samples of dystonia patients its relation with (non-)motor manifestations.Concentrations metabolites pathways were measured platelet-rich plasma 41 myoclonus-dystonia (M-D), 25 dopa-responsive (DRD), 50...
GTP-cyclohydrolase deficiency in dopa-responsive dystonia (DRD) patients impairs the biosynthesis of dopamine, but also serotonin. The high prevalence non-motor symptoms suggests involvement serotonergic pathway. Our study aimed to investigate system vivo brain of`DRD and correlate this (non-)motor symptoms. Dynamic [11C]DASB PET scans, a marker serotonin transporter availability, were performed. Ten DRD, 14 cervical 12 controls included. Univariate- network-analysis did not show differences...
Abstract Background Dystonia is a rare movement disorder, in which patients suffer from involuntary twisting movements or abnormal posturing. Next to these motor symptoms, have high prevalence of psychiatric comorbidity, suggesting role for serotonin its pathophysiology. This study investigates the percentage DNA methylation gene encoding reuptake transporter ( SLC6A4) dystonia and associations between levels presence severity symptoms. Methods Patients with cervical n = 49), myoclonus 41)...
Dystonia is a movement disorder in which patients have involuntary abnormal movements or postures. Non-motor symptoms, such as psychiatric sleep problems and fatigue, are common. We hypothesise that the gut microbiome might play role pathophysiology of (non-)motor symptoms dystonia via gut-brain axis. This exploratory study investigates composition compared to healthy controls. Furthermore, abundance neuro-active metabolic pathways, be implicated was investigated. performed both metagenomic...