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Background and purposeDespite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization.MethodsThe Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.ResultsSurvey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe.ConclusionsThis survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.

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The proceedings of the 3rd Annual Deep Brain Stimulation Think Tank summarize the most contemporary clinical, electrophysiological, imaging, and computational work on DBS for the treatment of neurological and neuropsychiatric disease. Significant innovations of the past year are emphasized. The Think Tank's contributors represent a unique multidisciplinary ensemble of expert neurologists, neurosurgeons, neuropsychologists, psychiatrists, scientists, engineers, and members of industry. Presentations and discussions covered a broad range of topics, including policy and advocacy considerations for the future of DBS, connectomic approaches to DBS targeting, developments in electrophysiology and related strides toward responsive DBS systems, and recent developments in sensor and device technologies.

Background: Telemedicine (TM) consultations have shown to be feasible for the management of neurological conditions including movement disorders. In contrast, satisfaction with such consultations have been less studied. Objective: To assess the satisfaction of persons with a movement disorder with a TM consultation in comparison to previous experiences in face-to-face visits. Subjects and Methods: A cross-sectional multicenter study was carried out. Persons with a diagnosis of a movement disorder underwent a TM consultation. After the consultation concluded, a satisfaction survey was sent for the subject to fill out anonymously. The survey included ease of use-related items, setup-related items, and quality-of-service-related items. Results: A total of 175 survey responses were received (response rate of 71.4%), all of which were included for analysis. A total of 102 subjects considered that the TM consultation involved much less time in comparison to their previous experience with face-to-face visits. Overall, 96% reported to be satisfied with the consultation. In addition, 92% were satisfied or very satisfied with the neurologist ability to communicate recommendations. Furthermore, 93.7% indicated that the consultation was valuable, and 90.9% considered that they would recommend teleconsultation to another patient. Conclusion: Patients with a diagnosis of a movement disorder consider TM as a convenient and potential tool for health services with a high level of satisfaction. [ABSTRACT FROM AUTHOR]

Background: Parkinson's disease (PD) is a neurodegenerative disorder whose treatment in advanced stages is often complex and challenging. The treatment goal at this stage is to provide greater clinical stability, with less "off" time and longer "on" time. Mucuna pruriens (MP) is a legume plant traditionally used in Ayurvedic medicine for Parkinsonian-type diseases. This plant contains a diversity of elements, among which levodopa stands out. Objective: We explored the effect of MP as adjunct therapy to levodopa in a PD patient. Methods: We report the case of a 42-year-old woman with PD in advanced stages due to motor fluctuations and dyskinesias. Due to the progression of her disease, the limitations that it generates and the economic inability to opt for other therapies such as surgical treatments, we used MP as an adjunct therapy to levodopa. Results: MP produces a clinical motor effect similar to conventional levodopa. MP shortened the time to reach the "on" state and prolonged this state without exacerbating dyskinesias. Psychiatric side effects were observed only with high dosages of MP. Conclusions: MP shows to be a promising adjunct therapy to levodopa in advanced PD patients without access to other conventional therapies. [ABSTRACT FROM AUTHOR]

Background: Essential tremor (ET) is a common movement disorder characterized by kinetic and postural tremor in the upper extremities and frequently in the midline. Persons with ET often also exhibit gait ataxia. Previous studies have observed associations between midline tremor severity and gait ataxia in persons with ET, suggesting a common pathophysiology distinct from that of upper extremity tremor. However, a causal link between midline tremor and gait impairment has not been established. Methods: We investigated tremor and gait in 24 persons with ET before and after implantation of unilateral deep brain stimulation into the ventralis intermedius nucleus of the thalamus. Results: Stimulation significantly improved tremor in the targeted upper extremity and midline. However, gait was unaffected at the cohort level. Furthermore, improvement in midline tremor was not significantly associated with gait improvement. Discussion: These findings revealed that midline tremor and gait impairment may be dissociable in persons with ET. [ABSTRACT FROM AUTHOR]

Abstract: Background: The ventral intermediate nucleus (VIM) is the target of choice for Essential Tremor (ET) deep brain stimulation (DBS). Renewed interest in caudal zona incerta (cZI) stimulation for tremor control has recently emerged and some groups believe this approach may address long‐term reduction of benefit seen with VIM‐DBS. Objectives: To compare clinical outcomes and DBS programming in the long‐term between VIM and cZI neurostimulation in ET‐DBS patients. Materials and Methods: A retrospective review of 53 DBS leads from 47 patients was performed. Patients were classified into VIM or cZI groups according to the location of the activated DBS contact. Demographics, DBS settings, and Tremor Rating Scale scores were compared between groups at baseline and yearly follow‐up to 4 years after DBS. Student t‐tests and analysis of variance (ANOVA) were used to compare variables between groups. Results: Relative to baseline, an improvement in ON‐DBS tremor scores was observed in both groups from 6 months to 4 years post‐DBS (p < 0.05). Although improvement was still significant at 4 years, scores from month 6 to 2 years were comparable between groups but at 3 and 4 years post‐DBS the outcome was better in the VIM group (p < 0.01). Stimulation settings were similar across groups, although we found a lower voltage in the VIM group at 3 years post‐DBS. Conclusions: More ventral DBS contacts in the cZI region do improve tremor, however, VIM‐DBS provided better long‐term outcomes. Randomized controlled trials comparing cZI vs VIM targets should confirm these results. [ABSTRACT FROM AUTHOR]

Background: Impedance is an integral property of neuromodulation devices that determines the current delivered to brain tissue. Long-term variability in therapeutic impedance following deep brain stimulation (DBS) has not been extensively investigated across different brain targets. The aim was to evaluate DBS impedance drift and variability over an extended postoperative period across common DBS targets. Methods: Retrospective data from 1,764 electrode leads were included and drawn from 866 DBS patients enrolled in the University of Florida Institutional Review Board-approved INFORM database and analyzed up to 84 months post implantation. An exploratory analysis was conducted to identify trends in impedances using a Mann-Kendall test of trend. Results: There were 866 patients and 1,764 leads available for analysis. The majority of subjects had Parkinson's disease (60.7%). The mean age at implantation was 58.7 years old and the mean follow-up time was 36.8 months. There were significant fluctuations in the mean impedance of all electrodes analyzed that largely stabilized by 6 months except for the subthalamic nucleus (STN) target, in which fluctuations persisted throughout the duration of follow-up with a continued downward trend (p, 0.001). Discussion: The drift in impedance observed primarily within the first 6 months is in keeping with prior studies and is likely due to surgical micro-lesioning effects and brain parenchyma remodeling at the electrode-tissue interface, typically at values approximating 1,000 V. The differences in impedance trends over time in the various DBS targets may be due to underlying differences in structure and tissue composition. [ABSTRACT FROM AUTHOR]

Background The objective of this study was to compare the incidence and prevalence of depressive symptoms in atypical parkinsonian ( APD) syndromes versus Parkinson disease ( PD). Methods In a large, retrospective patient cohort, the authors analyzed the incidence and prevalence of depressive symptoms using the Beck Depression Inventory and evaluated patients longitudinally on subsequent visits. For individuals who were followed at subsequent visits, incidence rates were calculated in person-years as a measure of incidence. Results In total, 361 patients were identified who had APD syndromes, including progressive supranuclear palsy, corticobasal degeneration, multiple system atrophy, and dementia with Lewy bodies; and 2352 patients with PD were used as a control group. The mean Beck Depression Inventory values were significantly higher in patients with APD (F = 14.19; P < 0.001). A significantly higher proportion of those with APD screened positive for depressive symptoms both at the initial visit and on subsequent visits ( P < 0.001), and depressive symptoms appeared to be more severe in the APD subgroups. Unified Parkinson's Disease Rating Scale motor scores and disease duration were correlated with depressive symptoms. Conclusions The current results suggest that the incidence and prevalence of depressive symptoms are higher in patients with APD syndromes and also appear to be more severe than those in patients with PD. Depressive symptoms in APD are common and affect patients regardless of disease duration or motor severity. [ABSTRACT FROM AUTHOR]