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Background: Information on specialist physiotherapeutic treatment for functional movement disorders is scarce. Previous studies focussed on functional gait disorders and availability of descriptions of the practical application especially for other body regions is very limited. Cases: We present two illustrative cases, demonstrating the key elements of physiotherapy for the treatment of functional movement disorders beyond gait difficulties. The individual applicability of the specific core elements of physiotherapy, adapted to the individual needs of each patient, are described. We also explain, how different sensory stimuli can be used to shift attention away from symptoms and thus reduce them. Moreover, we discuss how patients' agency can be encouraged and how this results in therapy key moments, contributing to a sustained improvement of symptoms. Conclusion: Thus, our case series are intended to guide clinicians and therapists alike, to promote disease-specific physiotherapy for this common and treatable neuropsychiatric disorder.
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Modalidades de Fisioterapia , Humanos , Femenino , Masculino , Trastornos del Movimiento/terapia , Trastornos del Movimiento/fisiopatología , Trastornos del Movimiento/rehabilitación , Persona de Mediana Edad , Adulto , Extremidad Superior/fisiopatologíaRESUMEN
BACKGROUND: Head tremor is common in dystonia syndromes and difficult to treat. Deep brain stimulation (DBS) is a therapeutic option in medically-refractory cases. In most DBS-centers, the globus pallidus internus (GPi) is targeted in patients with predominant dystonia and the ventrointermediate nucleus of the thalamus (Vim) in predominant tremor. The aim of the study was to evaluate the effect of GPi- versus Vim-DBS in dystonic or essential head tremor. METHODS: All patients with dystonia or essential tremor (ET) (n = 381) who underwent DBS surgery at our institution between 1999 and 2020 were screened for head tremor in our database according to predefined selection criteria. Of the 33 patients meeting inclusion criteria tremor and dystonia severity were assessed at baseline, short- (mean 10 months) and long-term follow-up (41 months) by two blinded video-raters. RESULTS: Twenty-two patients with dystonic head tremor received either GPi- (n = 12) or Vim-stimulation (n = 10), according to the prevailing clinical phenotype. These two groups were compared with 11 patients with ET, treated with Vim-stimulation. The reduction in head tremor from baseline to short- and long-term follow-up was 60-70% and did not differ significantly between the three groups. CONCLUSIONS: GPi-DBS effectively and sustainably reduced head tremor in idiopathic dystonia. The effect was comparable to the effect of Vim-DBS on head tremor in dystonia patients with predominant limb tremor and to the effect of Vim-DBS on head tremor in ET.
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Estimulación Encefálica Profunda , Distonía , Temblor Esencial , Globo Pálido , Tálamo , Humanos , Estimulación Encefálica Profunda/métodos , Temblor Esencial/terapia , Temblor Esencial/fisiopatología , Femenino , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Anciano , Adulto , Distonía/terapia , Tálamo/fisiopatología , Resultado del Tratamiento , Temblor/terapia , Temblor/etiología , Núcleos Talámicos Ventrales , Trastornos Distónicos/terapia , Trastornos Distónicos/fisiopatologíaRESUMEN
Background: Cervical dystonia (CD) is the most common form of focal dystonia in adults. Studies show that physiotherapy (PT) in combination with BoNT has an effect on pain in cervical dystonia. We intended to test this hypothesis in a real-world setting to answer the question of whether pain is a good target symptom for prescribing PT. We also aimed to assess which form of PT is most appropriate for the treatment of pain. Methods: Study design: cross-sectional survey-based study of 91 patients with a confirmed diagnosis of cervical dystonia. The survey consisted of a questionnaire on type, frequency and content of physiotherapy, an assessment of quality of life with the Craniocervical Dystonia Questionnaire 24 (CDQ 24) and subjective pain scores. Results: 53.8% of patients received physiotherapy, mostly a mixture of exercises to either correct the abnormal posture or to reduce the muscle tone. Additional therapies included stress-reducing exercises (14.3%), psychotherapy (9.9%) and EMG biofeedback (2.2%). Patients who received PT showed a non-significant tendency towards higher pain scores. The severity of dystonia-associated pain was significantly associated with the patients' quality of life (F (1,54) = 22.9, adjusted R2 = 0.286, p < 0.001). Discussion: Pain is a frequent problem in patients with CD and severely affects quality of life. Physiotherapy could therefore be a valuable treatment option for patients with CD and pain. Highlights: Our uncontrolled study illustrates the high frequency of physiotherapy in addition to BoNT treatment in a real-life cohort of patients with cervical dystonia. We were able to show that PT reduces patients' perceived pain in a patient reported outcome measure. This highlights the importance of PT in reducing CD-related pain, which considerably impairs quality of life.
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Trastornos Distónicos , Tortícolis , Adulto , Humanos , Tortícolis/complicaciones , Tortícolis/terapia , Calidad de Vida , Estudios Transversales , Modalidades de Fisioterapia , DolorRESUMEN
INTRODUCTION: Previous studies have shown that anticipatory postural adjustments (APAs) are altered in people with Parkinson's disease but its meaning for locomotion is less understood. This study aims to investigate the association between APAs and gait initiation, gait and freezing of gait and how a dynamic postural control challenging training may induce changes in these features. METHODS: Gait initiation was quantified using wearable sensors and subsequent straight walking was assessed via marker-based motion capture. Additionally, turning and FOG-related outcomes were measured with wearable sensors. Assessments were conducted one week before (Pre), one week after (Post) and 4 weeks after (Follow-up) completion of a training intervention (split-belt treadmill training or regular treadmill training), under single task and dual task (DT) conditions. Statistical analysis included a linear mixed model for training effects and correlation analysis between APAs and the other outcomes for Pre and Post-Pre delta. RESULTS: 52 participants with Parkinson's disease (22 freezers) were assessed. We found that APA size in the medio-lateral direction during DT was positively associated with gait speed (p<0.001) and stride length (p<0.001) under DT conditions at Pre. The training effect was largest for first step range of motion and was similar for both training modes. For the associations between changes after the training (pooled sample) medio-lateral APA size showed a significant positive correlation with first step range of motion (p = 0.033) only in the DT condition and for the non-freezers only. CONCLUSIONS: The findings of this work revealed new insights into how APAs were not associated with first step characteristics and freezing and only baseline APAs during DT were related with DT gait characteristics. Training-induced changes in the size of APAs were related to training benefits in the first step ROM only in non-freezers. Based on the presented results increasing APA size through interventions might not be the ideal target for overall improvement of locomotion.
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Trastornos Neurológicos de la Marcha , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/complicaciones , Trastornos Neurológicos de la Marcha/complicaciones , Marcha , Velocidad al Caminar , Equilibrio PosturalRESUMEN
Patients with Parkinson's Disease or a tremor syndrome may present with additional functional movement disorders. The differential diagnosis is particularly difficult. In some cases, functional symptoms occur either before the manifestation of the organic disease or can emerge as an additional symptom after Parkinson's disease or tremor became apparent. In patients with Parkinson's disease the prevalence for additional functional symptoms is 7 %. In the case that patients with Parkinson's diseases have one side that is more severely affected, additional functional motor symptoms such as functional rest tremor also occur on that same, predominantly affected side. Functional gait disorders occur frequently. Clinically, patients appear notably slow in automatized, daily tasks. Their speech is more whispering than hypophonic, bradykinesia during finger tapping manifest without a decrement. The Dopamintransporterszintigraphy (123) I FP-CIT SPECT; DaTSCANTM) may be helpful to differentiate between functional Parkinsonism and Parkinson's disease. Functional tremor in patients with an organic tremor syndrome is diagnosed with the same distraction techniques as in solely functional tremor. This includes cognitive, motor, and suggestive distraction maneuvers. In some cases, additional neurophysiological investigations such as accelerometry are useful for the differential diagnosis. It is most important to identify patients with additional functional symptoms in non-functional movement disorders, because the therapeutic approach differs and a multi professional team is required to initiate effective treatment strategies.
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Enfermedad de Parkinson , Temblor , Humanos , Diagnóstico Diferencial , Trastornos Neurológicos de la Marcha/fisiopatología , Trastornos Neurológicos de la Marcha/diagnóstico , Trastornos Neurológicos de la Marcha/etiología , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/fisiopatología , Síndrome , Temblor/diagnóstico , Temblor/fisiopatología , Temblor/etiología , Temblor/terapiaRESUMEN
BACKGROUND: Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucidated, neither in patients with dystonia nor with other, sometimes co-occurring movement disorders such as Parkinson's disease (PD). OBJECTIVES: To screen >2000 patients with dystonia or PD for rare variants in known dystonia-causing genes. METHODS: We screened 1207 dystonia patients from Germany (DysTract consortium), Spain, and South Korea, and 1036 PD patients from Germany for pathogenic variants using a next-generation sequencing gene panel. The impact on DNA methylation of KMT2B variants was evaluated by analyzing the gene's characteristic episignature. RESULTS: We identified 171 carriers (109 with dystonia [9.0%]; 62 with PD [6.0%]) of 131 rare variants (minor allele frequency <0.005). A total of 52 patients (48 dystonia [4.0%]; four PD [0.4%, all with GCH1 variants]) carried 33 different (likely) pathogenic variants, of which 17 were not previously reported. Pathogenic biallelic variants in PRKRA were not found. Episignature analysis of 48 KMT2B variants revealed that only two of these should be considered (likely) pathogenic. CONCLUSION: This study confirms pathogenic variants in GCH1, GNAL, KMT2B, SGCE, THAP1, and TOR1A as relevant causes in dystonia and expands the mutational spectrum. Of note, likely pathogenic variants only in GCH1 were also found among PD patients. For DYT-KMT2B, the recently described episignature served as a reliable readout to determine the functional effect of newly identified variants. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Distonía , Trastornos Distónicos , Enfermedad de Parkinson , Humanos , Distonía/genética , Trastornos Distónicos/genética , Mutación/genética , Frecuencia de los Genes , Enfermedad de Parkinson/genética , Chaperonas Moleculares/genética , Proteínas de Unión al ADN/genética , Proteínas Reguladoras de la Apoptosis/genéticaRESUMEN
BACKGROUND: Spastic movement disorder (SMD) develops in up to 43% of cases as a sequela of stroke. In the event of a functionally relevant or daily life impairing SMD or to avoid an impending complication, the medicinal treatment of a focal, multifocal and segmental increase in muscle tone with botulinum neurotoxin A (BoNT-A) is recommended; however, treatment data reveal a lack of guideline-conform treatment with BoNTA in Germany. OBJECTIVE: The aim of the reported expert meeting was to discuss solutions to the incorrect treatment and undertreatment of patients with SMD and to formulate consensus recommendations to improve the care situation. METHODS: At a consensus meeting held in April 2022, eight experts from the fields of neurology, physical medicine and rehabilitation discussed the causes for the incorrect treatment and undertreatment and formulated consensus solution approaches. RESULTS: Possible reasons for the current incorrect treatment and undertreatment in SMD management in Germany include insufficient awareness of SMD among physicians, a lack of treatment capacities, a lack of information transfer in discharge management as well as staff shortages in the specialized inpatient and outpatient SMD treatment centers. The committee therefore recommended a patient pathway in which affected patients with SMD are provided with correctly implemented BoNTA treatment in combination with physical measures. CONCLUSION: The recommended treatment pathway for use in stroke patients is intended to close gaps in care and thus ensure guideline-conform treatment of post-stroke SMD.
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Toxinas Botulínicas Tipo A , Fármacos Neuromusculares , Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular , Humanos , Espasticidad Muscular , Accidente Cerebrovascular/complicaciones , Atención AmbulatoriaRESUMEN
Background: Thalamic deep brain stimulation (DBS) is established for medically refractory tremor syndromes and globus pallidus stimulation (GPi-DBS) for medically refractory dystonia syndromes. For combined tremor and dystonia syndromes, the best target is unclear. Objectives: We present four patients with two different profiles whose clinical course demonstrates that our current analysis of clinical symptomatology is not a sufficient predictor of surgical success. Methods: Outcome parameters were assessed with observer-blinded video ratings and included the Fahn-Tolosa-Marin-Tremor Rating Scale (FTM-TRS) and the Unified Dystonia Rating Scale (UDRS). Results: Two patients with "predominant lateralized action tremor" of the hands and mild cervical dystonia showed no relevant tremor improvement after GPi-DBS, but UDRS improved (mean, 45%). Rescue ventral intermediate nucleus of the thalamus (Vim)-DBS electrodes were implanted and both patients benefited significantly with a mean tremor reduction of 51%.Two other patients with "axial-predominant action tremor of the trunk and head" associated with cervical dystonia underwent bilateral Vim-DBS implantation with little effect on tremor (24% reduction in mean FTM-TRS total score) and no effect on dystonic symptoms. GPi rescue DBS was implanted and showed a significant effect on tremor (63% reduction in mean FTM-TRS) and dystonia (49% reduction in UDRS). Conclusions: The diagnosis of dystonic tremor alone is not a sufficient predictor to establish the differential indication of GPi- or Vim-DBS. Further criteria (eg, proximal-distal distribution of tremor/dystonia) are needed to avoid rescue surgery in the future. On the other hand, the course of our patients encourages rescue surgery in such severely disabled patients if the first target fails.
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BACKGROUND: Fatigue is one of the most common and debilitating non-motor symptoms among patients with Parkinson's disease (PD) and significantly impacts quality of life. Therefore, effective treatment options are needed. OBJECTIVE: To provide an update on randomized controlled trials (RCTs) including pharmacological and non-pharmacological (but non-surgical) treatments that examine the effects of fatigue on PD patients. METHODS: We searched the MEDLINE, EMBASE, PsycINFO, CENTRAL, and CINAHL databases for (cross-over) RCTs on pharmacological and non-pharmacological interventions for treating fatigue in PD patients until May 2021. Meta-analyses for random-effects models were calculated when two or more studies on the same treatment option were available using standardized mean differences (SMDs) with 95% confidence intervals (CIs). RESULTS: Fourteen pharmacological and 16 non-pharmacological intervention RCTs were identified. For pharmacological approaches, a meta-analysis could only be performed for modafinil compared to placebo (nâ=â2) revealing a non-significant effect on fatigue (SMDâ=â- 0.21, 95% CI - 0.74-0.31, pâ=â0.43). Regarding non-pharmacological approaches, physical exercise (nâ=â8) following different training approaches versus passive or placebo control groups showed a small significant effect (SMDâ=â- 0.37, 95% CI - 0.69- - 0.05, pâ=â0.02) which could not be demonstrated for acupuncture vs. sham-acupuncture (SMDâ=â0.16, 95% CI - 0.19-0.50, pâ=â0.37). CONCLUSION: Physical exercise may be a promising strategy to treat fatigue in PD patients. Further research is required to examine the efficacy of this treatment strategy and further interventions. Future studies should differentiate treatment effects on physical and mental fatigue as the different underlying mechanisms of these symptoms may lead to different treatment responses. More effort is required to develop, evaluate, and implement holistic fatigue management strategies for PD patients.
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Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/terapia , Ejercicio Físico , Modafinilo , Calidad de VidaRESUMEN
BACKGROUND: Questionable signs of dystonia are a common finding in patients with essential tremor (ET). Brain structural alterations in ET patients plus dystonic soft signs (ET + ds) in comparison to ET patients without dystonic soft signs (ET-ds) or patients with tremor associated with manifest dystonia (TAWD) have not been examined yet. Therefore, our study aims to explore alterations of brain grey matter in patients with ET + ds. METHODS: A total of 68 elderly patients with ET-ds (n = 32), ET + ds (n = 20) or idiopathic cervical dystonia with dystonia associated action tremor of the upper limbs (TAWD, n = 16) and 42 age-matched healthy controls underwent a clinical and electrophysiological assessment and 3T MRI. For grey matter alterations T1 MRI images were analysed by voxel-based morphometry. Additionally, regression analyses with clinical parameters (tremor frequency, severity and disease duration) were performed. RESULTS: VBM showed a significant increase of grey matter in the right lentiform nucleus in ET + ds and TAWD compared to HC and ET-ds. Further, an increase of cortical grey matter in the middle frontal gyrus in ET + ds was shown. The hypertrophy of the lentiform nucleus in ET + ds was correlated with disease severity and duration. CONCLUSION: Patients with ET + ds showed grey matter brain structural alterations similar to TAWD. Our findings suggest an involvement of the basal ganglia-cortical loop in ET + ds which may indicate a pathophysiological similarity with TAWD rather than ET.
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Trastornos Distónicos , Temblor Esencial , Tortícolis , Humanos , Anciano , Temblor Esencial/diagnóstico , Sustancia Gris/diagnóstico por imagen , Temblor , Encéfalo , Tortícolis/complicaciones , Imagen por Resonancia MagnéticaRESUMEN
INTRODUCTION: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
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Distonía , Trastornos Distónicos , Trastornos del Movimiento , Humanos , Distonía/etiología , Temblor/epidemiología , Temblor/genética , Temblor/complicaciones , Trastornos Distónicos/epidemiología , Trastornos Distónicos/genética , Trastornos Distónicos/complicaciones , Trastornos del Movimiento/complicaciones , Análisis por ConglomeradosRESUMEN
Essential tremor (ET) is a progressive movement disorder whose pathophysiology is not fully understood. Current evidence supports the view that the cerebellum is critically involved in the genesis of the tremor in ET. However, it is still unknown whether cerebellar dysfunction affects not only the control of current movements but also the prediction of future movements through dynamic adaptation toward a changed environment. Here, we tested the capacity of 28 patients with ET to adapt in a visuomotor adaptation task known to depend on intact cerebellar function. We found specific impairments in that task compared to age-matched healthy controls. Adaptation to the visual perturbation was disrupted in ET patients, while de-adaptation, the phase after abrupt removal of the perturbation, developed similarly to control subjects. Baseline tremor-independent motor performance was as well similar to healthy controls, indicating that adaptation deficits in ET patients were not rooted in an inability to perform goal-directed movements. There was no association between clinical severity scores of ET and early visuomotor adaptation abilities. These results provide further evidence that the cerebellum is dysfunctional in ET.
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Temblor Esencial , Humanos , Desempeño Psicomotor/fisiología , Temblor , Cerebelo/fisiología , Movimiento/fisiología , Adaptación Fisiológica/fisiologíaRESUMEN
BACKGROUND: Cervical dystonia (CD) is characterized by involuntary contractions of the cervical muscles. Data on long-term effectiveness of deep brain stimulation (DBS) are rare. The aim of this study was to evaluate the longitudinal ten years treatment efficacy of DBS in the globus pallidus internus (GPI). METHODS: A retrospective single-center data analysis was performed on patients with idiopathic CD, who were treated with GPI DBS for at least 10 years. TWSTR severity score and individual sub-items were compared between pre and post DBS surgery (n = 15) over time. RESULTS: There was a significant and persistent positive effect regarding the severity of TWSTRS between the conditions immediately before and 1, 5, and 10 years after establishment of GPI DBS (mean difference: 6.6-7 ± 1.6). Patients with increasing CD complexity showed a poorer response to established treatment forms, such as injection of botulinum toxin and were thus DBS candidates. Especially a predominant torticollis was significantly improved by DBS. CONCLUSION: GPI DBS is an effective procedure especially in severely affected patients with a positive 10-year outcome. It should be considered in more complex CD-forms or predominant torticollis.
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BACKGROUND: Orthostatic hypotension (OH) in Parkinson's disease (PD) is frequent and associated with impairments in quality of life and reduced activities of daily living. Abdominal binders (AB) and compression stockings (CS) have been shown to be effective non-pharmacological treatment options. OBJECTIVE: Here, we investigate the effect of AB versus CS on physical activity using a digital mobility outcome (sit to stand [STS] frequency) collected in the usual environment as a primary endpoint. METHODS: We enrolled 16 PD patients with at least moderate symptomatic OH. In a randomized, single-blinded, controlled, crossover design, participants were assessed without OH treatment over 1 week (baseline), then were given AB or CS for 1 week and subsequently switched to the other treatment arm. The primary outcome was the number of real-life STS movements per hour as assessed with a lower back sensor. Secondary outcomes included real-life STS duration, mean/systolic/diastolic blood pressure drop (BPD), orthostatic hypotension questionnaire (OHQ), PD quality of life (PDQ-39), autonomic symptoms (SCOPA-AUT), non-motor symptoms (NMSS), MDS-UPDRS, and activities of daily living (ADL/iADL). RESULTS: Real-life STS frequency on CS was 4.4±4.1 per hour compared with 3.6±2.2 on AB and 3.6±1.8 without treatment (pâ=â1.0). Concerning the secondary outcomes, NMSS showed significant improvement with CS and AB. OHQ and SCOPA-AUT improved significantly with AB but not CS, and mean BPD drop worsened with CS but not AB. Mean STS duration, PDQ-39, MDS-UPDRS, ADL, and iADL did not significantly change. CONCLUSION: Both AB and CS therapies do not lead to a significant change of physical activity in PD patients with at least moderate symptomatic OH. Secondary results speak for an effect of both therapies concerning non-motor symptoms, with superiority of AB therapy over CS therapy.
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Hipotensión Ortostática , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/terapia , Enfermedad de Parkinson/diagnóstico , Hipotensión Ortostática/terapia , Hipotensión Ortostática/complicaciones , Proyectos Piloto , Estudios Cruzados , Calidad de Vida , Actividades Cotidianas , Extremidad InferiorRESUMEN
Neurological diseases are associated with static postural instability. Differences in postural sway between neurological diseases could include "conceptual" information about how certain symptoms affect static postural stability. This information might have the potential to become a helpful aid during the process of finding the most appropriate treatment and training program. Therefore, this study investigated static postural sway performance of Parkinson's disease (PD) and multiple sclerosis (MS) patients, as well as of a cohort of healthy adults. Three increasingly difficult static postural tasks were performed, in order to determine whether the postural strategies of the two disease groups differ in response to the increased complexity of the balance task. Participants had to perform three stance tasks (side-by-side, semi-tandem and tandem stance) and maintain these positions for 10 s. Seven static sway parameters were extracted from an inertial measurement unit that participants wore on the lower back. Data of 47 healthy adults, 14 PD patients and 8 MS patients were analyzed. Both healthy adults and MS patients showed a substantial increase in several static sway parameters with increasingly complex stance tasks, whereas PD patients did not. In the MS patients, the observed substantial change was driven by large increases from semi-tandem and tandem stance. This study revealed differences in static sway adaptations between PD and MS patients to increasingly complex stance tasks. Therefore, PD and MS patients might require different training programs to improve their static postural stability. Moreover, this study indicates, at least indirectly, that rigidity/bradykinesia and spasticity lead to different adaptive processes in static sway.
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Objective: In this study we used functional magnetic resonance imaging (fMRI) to investigate whether motor imagery (MI) of handwriting and circle drawing activates a similar handwriting network as writing and drawing itself. Methods: Eighteen healthy right-handed participants wrote the German word "Wellen" and drew continuously circles in a sitting (vertical position) and lying position (horizontal position) to capture kinematic handwriting parameters such as velocity, pressure and regularity of hand movements. Afterward, they performed the same tasks during fMRI in a MI and an executed condition. Results: The kinematic analysis revealed a general correlation of handwriting parameters during sitting and lying except of pen pressure during drawing. Writing compared to imagined writing was accompanied by an increased activity of the ipsilateral cerebellum and the contralateral sensorimotor cortex. Executed compared to imagined drawing revealed elevated activity of a fronto-parieto-temporal network. By contrasting writing and drawing directly, executed writing induced an enhanced activation of the left somatosensory and premotor area. The comparison of the MI of these tasks revealed a higher involvement of occipital activation during imagined writing. Conclusion: The kinematic results pointed to a high comparability of writing in a vertical and horizontal position. Overall, we observed highly overlapping cortical activity except of a higher involvement of motor control areas during motor execution. The sparse difference between writing and drawing can be explained by highly automatized writing in healthy individuals.
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The various forms of tremor are now classified in two axes: clinical characteristics (axis 1) and etiology (axis 2). Electrophysiology is an extension of the clinical exam. Electrophysiologic tests are diagnostic of physiologic tremor, primary orthostatic tremor, and functional tremor, but they are valuable in the clinical characterization of all forms of tremor. Electrophysiology will likely play an increasing role in axis 1 tremor classification because many features of tremor are not reliably assessed by clinical examination alone. In particular, electrophysiology may be needed to distinguish tremor from tremor mimics, assess tremor frequency, assess tremor rhythmicity or regularity, distinguish mechanical-reflex oscillation from central neurogenic oscillation, determine if tremors in different body parts, muscles, or brain regions are strongly correlated, document tremor suppression or entrainment by voluntary movements of contralateral body parts, and document the effects of voluntary movement on rest tremor. In addition, electrophysiologic brain mapping has been crucial in our understanding of tremor pathophysiology. The electrophysiologic methods of tremor analysis are reviewed in the context of physiologic tremor and pathologic tremors, with a focus on clinical characterization and pathophysiology. Electrophysiology is instrumental in elucidating tremor mechanisms, and the pathophysiology of the different forms of tremor is summarized in this review.
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Temblor Esencial , Temblor , Encéfalo , Mapeo Encefálico/efectos adversos , Temblor Esencial/diagnóstico , HumanosRESUMEN
Patients with idiopathic Parkinson's disease develop symptoms of the hallucination-psychosis spectrum in more than 20%. Most common are visual hallucinations. The pathogenesis of hallucinations mainly depends on disease duration, the distribution and extent of alpha-synuclein pathology, and modulating effects of the dopaminergic therapy. When managing PD hallucinations both anti-delirogenic actions and medication management are important. However, decrease in dopaminergic medication may lead to critical worsening of akinesia. If appropriate neuroleptic medication - essentially quetiapin or clozapin - can be considered. Instead, anti-dopaminergic neuroleptics should not be used owing to their pro-akinetic side-effects. Here, we provide therapy recommendations to manage PD hallucinations based on an up-to-date targeted review of the literature and expert-based empirical evidence.
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Antipsicóticos , Enfermedad de Parkinson , Trastornos Psicóticos , Antipsicóticos/uso terapéutico , Alucinaciones/diagnóstico , Alucinaciones/tratamiento farmacológico , Alucinaciones/etiología , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/tratamiento farmacológico , Enfermedad de Parkinson/patología , Trastornos Psicóticos/terapia , alfa-Sinucleína/uso terapéuticoRESUMEN
Dystonia, a debilitating neurological movement disorder, is characterized by involuntary muscle contractions and develops from a complex pathophysiology. Graph theoretical analysis approaches have been employed to investigate functional network changes in patients with different forms of dystonia. In this study, we aimed to characterize the abnormal brain connectivity underlying writer's cramp, a focal hand dystonia. To this end, we examined functional magnetic resonance scans of 20 writer's cramp patients (11 females/nine males) and 26 healthy controls (10 females/16 males) performing a sequential finger tapping task with their non-dominant (and for patients non-dystonic) hand. Functional connectivity matrices were used to determine group averaged brain networks. Our data suggest that in their neuronal network writer's cramp patients recruited fewer regions that were functionally more segregated. However, this did not impair the network's efficiency for information transfer. A hub analysis revealed alterations in communication patterns of the primary motor cortex, the thalamus and the cerebellum. As we did not observe any differences in motor outcome between groups, we assume that these network changes constitute compensatory rerouting within the patient network. In a secondary analysis, we compared patients with simple writer's cramp (only affecting the hand while writing) and those with complex writer's cramp (affecting the hand also during other fine motor tasks). We found abnormal cerebellar connectivity in the simple writer's cramp group, which was less prominent in complex writer's cramp. Our preliminary findings suggest that longitudinal research concerning cerebellar connectivity during WC progression could provide insight on early compensatory mechanisms in WC.
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OBJECTIVE: Planning of voluntary object-related movements requires the estimation of the most probable object properties. We investigated how 14 writer's cramp (WC) patients compared to 14 controls use probabilistic weight cues in a serial grip-lift task. METHODS: In every grip-lift trial, an object of either light, medium or heavy weight had to be grasped and lifted after a visual cue gave a probabilistic prediction of the object weights (e.g. 32.5% light, 67.5% medium, 0 % heavy). We determined peak (1) grip force GF, (2) load force LF, (3) grip force rate GFR, (4) load force rate LFR, while we registered brain activity with functional magnetic resonance imaging. RESULTS: In both groups, GFR, LFR and GF increased when a higher probability of heavy weights was announced. When a higher probability of light weights was indicated, controls reduced GFR, LFR and GF, while WC patients did not downscale their forces. There were no inter-group differences in blood oxygenation level dependent activation. CONCLUSIONS: WC patients could not utilize the decision range in motor planning and adjust their force in a probabilistic cued fine motor task. SIGNIFICANCE: The results support the pathophysiological model of a hyperfunctional dopamine dependent direct basal ganglia pathway in WC.