Non-invasive brain stimulation techniques including repetitive transcranial magnetic stimulation (rTMS), continuous theta-burst stimulation (cTBS), paired associative stimulation (PAS), and ...transcranial direct current stimulation (tDCS) have been applied over the cerebellum to induce plasticity and gain insights into the interaction of the cerebellum with neo-cortical structures including the motor cortex. We compared the effects of 1 Hz rTMS, cTBS, PAS and tDCS given over the cerebellum on motor cortical excitability and interactions between the cerebellum and dorsal premotor cortex / primary motor cortex in two within subject designs in healthy controls. In experiment 1, rTMS, cTBS, PAS, and tDCS were applied over the cerebellum in 20 healthy subjects. In experiment 2, rTMS and PAS were compared to sham conditions in another group of 20 healthy subjects. In experiment 1, PAS reduced cortical excitability determined by motor evoked potentials (MEP) amplitudes, whereas rTMS increased motor thresholds and facilitated dorsal premotor-motor and cerebellum-motor cortex interactions. TDCS and cTBS had no significant effects. In experiment 2, MEP amplitudes increased after rTMS and motor thresholds following PAS. Analysis of all participants who received rTMS and PAS showed that MEP amplitudes were reduced after PAS and increased following rTMS. rTMS also caused facilitation of dorsal premotor-motor cortex and cerebellum-motor cortex interactions. In summary, cerebellar 1 Hz rTMS and PAS can effectively induce plasticity in cerebello-(premotor)-motor pathways provided larger samples are studied.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Myoclonus-Dystonia is a rare, neurological movement disorder, clinically characterized by myoclonic jerks and dystonic symptoms, such as cervical dystonia and writer’s cramp. Psychiatric symptoms, ...like anxiety, depression, and addiction, are frequently reported. Monogenic Myoclonus-Dystonia is mostly caused by pathogenic variants in the ε-sarcoglycan gene, which is among other regions highly expressed in the cerebellum. The current pharmacological treatment is not satisfactory. Neurophysiological and imaging studies in this patient population are scarce with partly heterogeneous results and sometimes important limitations. However, some studies point towards subcortical alterations, e.g., of the cerebellum and its connections. Further studies addressing previous limitations are important for a better understanding of the underlying pathology of Myoclonus-Dystonia and might build a bridge for the development of future treatment.
Zusammenfassung
Hintergrund
Als Dystonien werden hyperkinetische Bewegungsstörungen bezeichnet, die durch anhaltende oder intermittierende Muskelkontraktionen zu Verdrehungen, Verkrampfungen und ...Tremor führen. Die zervikale Dystonie ist die häufigste Dystonieform, sie betrifft den Kopf‑, Hals- und/oder Schulterbereich. Neben diesen motorischen Symptomen sind Schmerzen und psychiatrische Symptome bei (zervikalen) Dystonien häufig.
Fragestellung
Beschreibung des Vorkommens und der Evaluation von Schmerzen bei zervikaler Dystonie, Zusammenfassung und Diskussion der Behandlungsmöglichkeiten und -wirkungen.
Material und Methoden
Im vorliegenden Übersichtsbeitrag werden die Erkenntnisse aus der wissenschaftlichen Fachliteratur zu Schmerzen bei Dystonien zusammengefasst und diskutiert.
Ergebnisse
Im Vergleich zu anderen Dystonieformen treten Schmerzen bei Patienten mit einer zervikalen Dystonie am häufigsten auf. Ein Großteil der Patienten mit einer zervikalen Dystonie leidet unter Schmerzen. Diese tragen am meisten zur Beeinträchtigung der Patienten bei. Die motorischen Symptome werden meist mit Botulinumtoxininjektionen behandelt. Diese wirken muskelentspannend und zudem auch schmerzlindernd. Die Studienlage zum Vorkommen und zur Therapie von Schmerzen bei anderen Dystonieformen ist bislang sehr limitiert. Der Schmerz kann bei Patienten mit einer zervikalen Dystonie im Vordergrund des Krankheitsbilds stehen. Die Evaluation von Schmerzen bei zervikalen Dystonien kann mittels standardisierter Fragebögen durchgeführt werden.
Schlussfolgerungen
Es ist wichtig, Patienten mit zervikaler Dystonie zu Schmerzen zu befragen und diese in der Therapieplanung und -evaluation zu berücksichtigen. Umgekehrt sollte bei Schmerzen auch an eine Dystonie als mögliche Ursache gedacht werden. Zur Evaluation gibt es teils neu entwickelte Fragebögen, um Schmerzen bei Patienten mit Dystonien standardisiert zu erfassen. Weitere Forschung ist nötig, um die Pathomechanismen der Schmerzen bei Dystonien besser zu verstehen.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Dystonia is a hyperkinetic movement disorder that results in twisting, cramps and tremors due to sustained or intermittent muscle contractions. Cervical dystonia is the most common form of dystonia, ...in which the head, neck and/or shoulder areas are affected. In addition to these motor symptoms, pain and psychiatric symptoms are frequent in (cervical) dystonia.
Description of the incidence and evaluation of pain in cervical dystonia, summary and discussion of treatment options and effects.
In this review article the results in the scientific literature on pain in dystonia are summarized and discussed.
Compared to other forms of dystonia, pain occurs most frequently in patients with cervical dystonia. A large proportion of patients with cervical dystonia suffer from pain, which contributes most to impairment of the patient. The motor symptoms of dystonia are usually treated with botulinum toxin injections. These have a muscle relaxing effect and also relieve pain. The study situation on the occurrence and treatment of pain in other forms of dystonia is so far very limited. Pain can dominate the clinical picture in patients with cervical dystonia. Evaluation of pain in cervical dystonia can be performed using standardized questionnaires.
It is important to ask patients with cervical dystonia about pain and to consider it in treatment planning and evaluation. Vice versa, if pain is present the possibility of a causative dystonia should also be considered. For pain assessment there are some newly developed questionnaires to assess pain in a standardized way in patients with dystonia. Further research is needed to better understand the pathomechanisms of pain in dystonia.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
ZUSAMMENFASSUNG
Funktionelle neurologische Bewegungsstörungen gehören zu den häufigsten neurologischen Erkrankungen, führen oft zu einer erheblichen Einschränkung der Lebensqualität der Betroffenen ...und zu einer massiven finanziellen Belastung des Gesundheitssystems. Die Diagnose wird klinisch anhand positiver Diagnosekriterien gestellt, was apparative, kostenintensive Zusatzdiagnostik meist unnötig macht. Gehäuft kommt es allerdings zu einer erheblichen Verzögerung der Diagnose und damit verbunden, der Einleitung einer krankheitsspezifischen Therapie. In unserem Artikel möchten wir die Hauptpfeiler der klinischen Diagnose – die Inkongruenz und Inkonsistenz – die allen funktionellen Bewegungsstörungen gemeinsam ist, erläutern und darauf aufbauend die unterschiedlichen Subgruppen mit ihren individuellen klinischen Charakteristika und den dazugehörigen Untersuchungstechniken praxisnah erklären. Dies soll dazu beitragen, dass die Diagnose schnell und sicher gestellt werden kann. Außerdem ergeben sich aus den aufgeführten klinischen Charakteristika für die Therapie bedeutsame Strategien, z. B. die Modulation von Aufmerksamkeit, die in der Physio- und Psychotherapie zur Anwendung gebracht, aber vor allem durch die Patienten selbst genutzt werden können.
Dystonia is a movement disorder of variable etiology and clinical presentation and is accompanied by tremor in about 50% of cases. Monogenic causes in dystonia are rare, but also in the group of ...non-monogenic dystonias 10–30% of patients report a family history of dystonia. This points to a number of patients currently classified as idiopathic that have at least in part an underlying genetic contribution. The present study aims to identify clinical and demographic features associated with heritability of yet idiopathic dystonia.
Seven hundred thirty-three datasets were obtained from the DysTract dystonia registry, patients with acquired dystonia or monogenic causes were excluded. Affected individuals were assigned to a familial and sporadic group, and clinical features were compared across these groups. Additionally, the history of movement disorders was also counted in family members.
18.2% of patients reported a family history of dystonia. Groups differed in age at onset, disease duration and presence of tremor on a descriptive level. Logistic regression analysis revealed that tremor was the only predictor for a positive family history of dystonia (OR 2.49, CI = 1.54–4.11, p < 0.001). Tremor turned out to be the most common movement disorder in available relatives of patients, and presence of tremor in relatives was associated with tremor in index patients (X2(1) = 16.2, p < 0.001).
Tremor is associated with an increased risk of familial clustering of dystonia and with a family history of tremor itself. This indicates a hereditable dystonia-tremor syndrome with a clinical spectrum ranging from tremor-predominant diseases to dystonia.
•Tremor is associated with increased familial occurrence of dystonia.•In families of dystonia patients tremor is more common than dystonia.•Dystonia and tremor are suggested to represent a continuum of a phenotypic spectrum with a shared genetic etiology.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Deep brain stimulation of the subthalamic nucleus is effective to alleviate motor symptoms in advanced Parkinson's disease. Using a novel conditioning paradigm, it has been shown that deep brain ...stimulation pulses from electrodes in the subthalamic nucleus modulate corticospinal excitability as determined with transcranial magnetic stimulation applied to the motor cortex. The mechanism of action is unclear.
To investigate the effects of subthalamic nucleus and dorsal premotor cortex conditioning on corticospinal excitability as a function of interstimulus intervals between target areas and deep brain stimulation frequencies.
In 19 patients with Parkinson's disease with subthalamic nucleus deep brain stimulation, the premotor-motor interaction was investigated in four different deep brain stimulation conditions (off, clinically used settings, 3 Hz, 20 Hz). Transcranial magnetic pulses were applied to the premotor and motor cortex and paired at certain intervals with deep brain stimulation pulses. The volume of tissue activated by deep brain stimulation was correlated with neurophysiological findings.
There was distinct motor cortex inhibition by premotor cortex conditioning at an interstimulus interval of 1 ms before the motor cortex stimulation. Subthalamic nucleus conditioning with deep brain stimulation frequencies of 3 and 20 Hz at an interstimulus interval of 10 ms between subthalamic nucleus and primary motor cortex reduced premotor-motor inhibition. The volume of tissue activated by deep brain stimulation correlated positively with this effect. Corticospinal excitability was not affected by subthalamic nucleus conditioning as used here.
Premotor-motor inhibition is modulated by subthalamic nucleus conditioning, presumably through the monosynaptic hyperdirect pathway.
•Very short latency premotor conditioning reduces corticospinal excitability.•Deep brain stimulation can be used for time-locked subthalamic nucleus conditioning.•Subthalamic nucleus conditioning reduced premotor-motor-inhibition.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
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