Introduction: The success of deep brain stimulation (DBS) treatment depends on several factors, including proper patient selection, accurate electrode placement, and adequate stimulation settings.... Show moreIntroduction: The success of deep brain stimulation (DBS) treatment depends on several factors, including proper patient selection, accurate electrode placement, and adequate stimulation settings. Another factor that may impact long-term satisfaction and therapy outcomes is the type of implantable pulse generator (IPG) used: rechargeable or non-rechargeable. However, there are currently no guidelines on the choice of IPG type. The present study investigates the current practices, opinions, and factors DBS clinicians consider when choosing an IPG for their patients.Methods: Between December 2021 and June 2022, we sent a structured questionnaire with 42 questions to DBS experts of two international, functional neurosurgery societies. The questionnaire included a rating scale where participants could rate the factors influencing their choice of IPG type and their satisfaction with certain IPG aspects. Additionally, we presented four clinical case scenarios to assess preference of choice of IPG-type in each case.Results: Eighty-seven participants from 30 different countries completed the questionnaire. The three most relevant factors for IPG choice were "existing social support," "cognitive status," and "patient age." Most participants believed that patients valued avoiding repetitive replacement surgeries more than the burden of regularly recharging the IPG. Participants reported that they implanted the same amount of rechargeable as non-rechargeable IPGs for primary DBS insertions and 20% converted non-rechargeable to rechargeable IPGs during IPG replacements. Most participants estimated that rechargeable was the more cost-effective option.Conclusion: This present study shows that the decision-making of the choice of IPG is very individualized. We identified the key factors influencing the physician's choice of IPG. Compared to patient-centric studies, clinicians may value different aspects. Therefore, clinicians should rely not only on their opinion but also counsel patients on different types of IPGs and consider the patient's preferences. Uniform global guidelines on IPG choice may not represent regional or national differences in the healthcare systems. Show less
Background: Little information is available on the official postgraduate and subspecialty training programs in movement disorders (MD) in Europe and North Africa.Objective: To survey the accessible... Show moreBackground: Little information is available on the official postgraduate and subspecialty training programs in movement disorders (MD) in Europe and North Africa.Objective: To survey the accessible MD clinical training in these regions.Methods: We designed a survey on clinical training in MD in different medical fields, at postgraduate and specialized levels. We assessed the characteristics of the participants and the facilities for MD care in their respective countries. We examined whether there are structured, or even accredited postgraduate, or subspecialty MD training programs in neurology, neurosurgery, internal medicine, geriatrics, neuroradiology, neuropediatrics, and general practice. Participants also shared their suggestions and needs.Results: The survey was completed in 31/49 countries. Structured postgraduate MD programs in neurology exist in 20 countries; structured neurology subspecialty training exists in 14 countries and is being developed in two additional countries. Certified neurology subspecialty training was reported to exist in 7 countries. Recommended reading lists, printed books, and other materials are the most popular educational tools, while courses, lectures, webinars, and case presentations are the most popular learning formats. Mandatory activities and skills to be certified were not defined in 15/31 countries. Most participants expressed their need for a mandatory postgraduate MD program and for certified MD sub-specialization programs in neurology.Conclusion: Certified postgraduate and subspecialty training exists only in a minority of European countries and was not found in the surveyed Egypt and Tunisia. MD training should be improved in many countries. Show less
Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative disorder with a broad spectrum of clinical features. The disease is caused by a mutation in the Huntingtin gene (HTT... Show moreHuntington’s disease (HD) is a progressive autosomal dominant neurodegenerative disorder with a broad spectrum of clinical features. The disease is caused by a mutation in the Huntingtin gene (HTT) on the short arm of chromosome 4. In September 2015, the first-in-human study looking into the safety of an intrathecally administered antisense oligonucleotide therapy to reduce mutant HTT (mHTT) protein was launched in HD patients, where the drug proved to be safe and the intended mHTT lowering was demonstrated. The aim of this thesis is to find biomarkers corresponding with disease state and measuring progression in different stages of HD, which in turn can be used as suitable objective surrogate clinical trial endpoints. We put special emphasis on longitudinal study designs, as these provide the most useful clinical progression and parameter change associations. Although previous neuroimaging studies have shown potential markers, findings remain inconsistent or lacking association with disease state. As such, further exploration of neuroimaging techniques is of great relevance. Using different approaches to evaluate the potential usefulness of specific markers, we demonstrate biomarkers that may assist in the objective assessment of a potential disease-modifying intervention. Show less
The aim of this thesis is to examine employment and driving ability in gene carriers with Huntington’s disease (HD). HD is an autosomal-dominant inherited neurodegenerative disorder and manifests... Show moreThe aim of this thesis is to examine employment and driving ability in gene carriers with Huntington’s disease (HD). HD is an autosomal-dominant inherited neurodegenerative disorder and manifests during mid adulthood. The disease is clinically characterized by motor disturbances, cognitive decline and behavioral changes. Since there is currently no cure for HD, the focus of treatment is on improving quality of life and providing the necessary support to patients and families. Maintaining independence through employment and driving, for as long and as safely as possible, has a substantial influence on a patient’s general functioning. Our results consistently showed that the cognitive and behavioral changes of HD are more debilitating in daily life than the characteristic motor signs, and are associated with employment and driving a car. Healthcare professionals should be educated about HD to allow them to provide appropriate information to patients and families when discussing possible changes in working and driving as a result of HD. Individual evaluation of driving ability is warranted and the recommendation to stop driving should not solely be based on disease stage or a genetic confirmation. Multidisciplinary screening, using a HD-specific test battery, is recommended and should be embedded in the clinic. Show less
Motor disturbances are frequently reported in Complex Regional Pain Syndrome (CRPS) and may involve muscle weakness, problems with initiation and execution of movements and abnormal postures. The... Show moreMotor disturbances are frequently reported in Complex Regional Pain Syndrome (CRPS) and may involve muscle weakness, problems with initiation and execution of movements and abnormal postures. The general aim of this thesis was to investigate the contribution of sensory dysfunction to motor deficits in CRPS patients and to improve quantification of motor dysfunction. Comprehensive quantitative sensory testing techniques showed that a lower pressure pain threshold, measured over muscles, was the most prominent sensory abnormality in affected body parts of CRPS patients with and without dystonia, compared to healthy controls. Moreover, an association was found between sensory and motor dysfunction. A reduced pressure pain threshold was also the most deviant abnormality found in unaffected extremities of CRPS patients, indicating that muscle hyperalgesia is a widespread characteristic of CRPS. Furthermore, there were indications that impaired processing of proprioceptive information related to force production is disturbed in CRPS patients. Reliability and validity of the Range of Motion Scale (ROMS), a new clinical rating scale developed to assess the severity of fixed abnormal postures, was demonstrated. The phenomenology of movement disorders after peripheral trauma was systematically reviewed and potential mechanisms that may explain the underlying pathophysiology were discussed. Show less
Duijn, E. van; Reedeker, N.; Giltay, E.J.; Eindhoven, D.; Roos, R.A.C.; Mast, R.C. van der 2014
Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterised by pain and disturbed blood flow, temperature regulation and motor control. Knowledge on CRPS... Show moreComplex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterised by pain and disturbed blood flow, temperature regulation and motor control. Knowledge on CRPS and its movement disorders is scarce. Dysfunction in small nerve fiber processing was found in CRPS patients with dystonia. Furthermore, a dominant pattern of fixed dystonia was observed in two thirds of arms and legs: finger flexion, wrist flexion, elbow flexion and/or shoulder adduction; and ankle plantar flexion/inversion, toe flexion, knee flexion and/or hip internal rotation. A modelling study demonstrated that aberrant force feedback from Golgi tendon organs may be a factor. Cerebrospinal fluid findings did not support a role of inflammatory mediators in chronic CRPS-related dystonia. Characteristics of CRPS-related myoclonus were diverse. One intrathecal administration of methylprednisolone was not efficacious in chronic CRPS. Also, continuous intrathecal glycine showed no efficacy in CRPS-related dystonia. However, intrathecal baclofen reduced severity of CRPS-related dystonia, improved quality of life and remained efficacious over a period of one year. The findings lend support to the role of GABA (gamma aminobutyric acid)-ergic mechanisms in this cause of dystonia. The findings stimulate new directions of research on this topic. Show less
this thesis investigates a family with autosomal dominant neuronal ceroid lipofuscinosis, with chapters on clinical neurology, neuropathology, neurogenetics, neurophysiology, auditory and visual... Show morethis thesis investigates a family with autosomal dominant neuronal ceroid lipofuscinosis, with chapters on clinical neurology, neuropathology, neurogenetics, neurophysiology, auditory and visual aspects. Show less
