Movement Disorders (MD)

The MD researchers have set up a database consisting of approximately 1,500 patients. Currently, a major NEMO/ZonMW-TOP project is ongoing, which focuses on the use of machine learning algorithms to classify different types of movement disorders based on 3D video, sensors, and EMG activity.

In addition, phenotyping is used to describe patients with different common and rare movement disorders, such as myoclonus dystonia, progressive myoclonus ataxia, task-specific dystonia (‘zwabberbeen’), North Sea Progressive Myoclonus Epilepsy, and movement disorders associated with metabolic disorders, such as Niemann-Pick disease. Phenotyping is focused on both motor and non-motor symptoms, such as psychiatric and cognitive symptoms and quality of life.

The MD researchers are discovering new genes that underlie movement disorders and are unravelling the pathophysiology of and mechanisms underlying several diseases. The MD clinical department closely collaborates with the Department of Genetics, the Department of Biomedical Sciences of Cells and Systems (BSCS), and the Department of Nuclear Medicine & Molecular Imaging (NMMI).

The BSCS Department is conducting a lot of research on iron storage diseases such as neurodegeneration with brain iron accumulation (NBIA). The MD programme’s genetic studies focus on network analyses of genes involved in movement disorders to identify candidate genes. Electrophysiological studies provide insight into the pathophysiology of tremor, myoclonus, and dystonia.

In collaboration with the NMMI Department, we conduct fMRI and PET research on brain networks that are involved in different movement disorders (this is also part of the NEMO/ZonMW-TOP project).

More insight is needed into the pathophysiology of Parkinson’s disease (PD) and a personalized medicine approach, as well as the gut-brain axis, the role of inflammation, and the development of PD-related dementia and visual hallucinations. For this reason, the DUPARC cohort was started, a cohort of more than 150 L-DOPA-naïve, de novo PD patients who are extensively phenotyped using MRI imaging, F-DOPA PET (dopaminergic) and FEOBV PET (cholinergic) imaging, gut microbiome analysis (16S and metagenomics), optical coherence tomography, and neuropsychological examination, combined with genotyping (using GSA MD and single-cell RNA sequencing).

In this study, participants of the Lifelines-DEEP cohort serve as appropriate controls. Another line of research focuses on the treatment of visual hallucinations with repetitive transcranial magnetic stimulation (rTMS). In this research, advanced techniques are used to image brain network connectivity, based on which rTMS treatment is provided.

The MD treatment studies focus on the improvement of deep brain stimulation (DBS) for dystonia, using electrophysiological measurements before, during, and after the intervention. In the near future, a trial into the treatment of NBIA will be started in close collaboration with the BSCS Department.

This study is aimed at developing innovative treatments and focuses on advanced treatments for PD patients, disease modification, and the role of pharmacogenetics. The TULIP cohort includes 160 patients carrying a GBA1 mutation out of a national cohort of more than 500 patients with a GBA1 mutation that studies the clinical course of the different mutations. The TULIP cohort is aimed at developing new therapeutics, focusing on lysosomal hypo/dysfunction, to change the course of PD.

Currently, PD patients are using medication based on the principle of trial and error. A more personalized approach is needed, such as a medication passport for PD patients. This passport is now being created and tested, taking into account all genetic variants of receptors and enzymes involved in the dopaminergic and cholinergic treatment of PD patients.

PD patients require high-quality healthcare. In 2017, a regional PD centre of expertise (‘Punt voor Parkinson’) was established to provide PD care in Groningen. The centre offers all advanced therapies and coordinates professional education and clinical research in the Northern Netherlands. The concept of ‘Punt voor Parkinson’ has become available to other regions as well. Currently, the costs and benefits of this new organizational model of regional PD care are being analysed, with a focus on value instead of volume. Based on these analyses, this new way of organizing PD care will be more widely implemented.