Dataset Information

Knowledge gaps and research recommendations for essential tremor.

ABSTRACT: Essential tremor (ET) is a common cause of significant disability, but its etiologies and pathogenesis are poorly understood. Research has been hampered by the variable definition of ET and by non-standardized research approaches. The National Institute of Neurological Disorders and Stroke (USA) invited experts in ET and related fields to discuss current knowledge, controversies, and gaps in our understanding of ET and to develop recommendations for future research. Discussion focused on phenomenology and phenotypes, therapies and clinical trials, pathophysiology, pathology, and genetics. Across all areas, the need for collaborative and coordinated research on a multinational level was expressed. Standardized data collection using common data elements for genetic, clinical, neurophysiological, and pathological studies was recommended. Large cohorts of patients should be studied prospectively to collect bio-samples, characterize the natural history of the clinical syndrome including patient-oriented outcomes, investigate potential etiologies of various phenotypes, and identify pathophysiological mechanisms. In particular, cellular and system-level mechanisms of tremor oscillations should be elucidated because they may yield effective therapeutic targets and biomarkers. A neuropathology consortium was recommended to standardize postmortem analysis and further characterize neuropathological observations in the cerebellum and elsewhere. Furthermore, genome-wide association studies on large patient cohorts (>10,000 patients) may allow the identification of common genes contributing to risk, and whole exome or genome sequencing may enable the identification of genetic risk and causal mutations in cohorts and well-characterized families.

SUBMITTER: Hopfner F

PROVIDER: S-EPMC5271603 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Knowledge gaps and research recommendations for essential tremor.

Hopfner Franziska F Haubenberger Dietrich D Galpern Wendy R WR Gwinn Katrina K Van't Veer Ashlee A White Samantha S Bhatia Kailash K Adler Charles H CH Eidelberg David D Ondo William W Stebbins Glenn T GT Tanner Caroline M CM Helmich Rick C RC Lenz Fred A FA Sillitoe Roy V RV Vaillancourt David D Vitek Jerrold L JL Louis Elan D ED Shill Holly A HA Frosch Matthew P MP Foroud Tatiana T Kuhlenbäumer Gregor G Singleton Andrew A Testa Claudia M CM Hallett Mark M Elble Rodger R Deuschl Günther G

Parkinsonism & related disorders 20161004

Essential tremor (ET) is a common cause of significant disability, but its etiologies and pathogenesis are poorly understood. Research has been hampered by the variable definition of ET and by non-standardized research approaches. The National Institute of Neurological Disorders and Stroke (USA) invited experts in ET and related fields to discuss current knowledge, controversies, and gaps in our understanding of ET and to develop recommendations for future research. Discussion focused on phenome ...[more]

PMID: 27769649

Similar Datasets

Project description:Essential tremor (ET) is among the most common neurological diseases and it often runs in families. How knowledgeable ET patients and their families are about their disease has been the subject of surprisingly little scholarship.To fill this gap in knowledge, we administered a comprehensive 32-item survey (i.e., questions about etiology, pathophysiology, symptoms and signs, natural history, and treatments) to 427 participants, including 76 ET probands, 74 affected relatives (AFRs), 238 unaffected relatives, and 39 spouses of unaffected relatives, all of whom were participating in two ET family studies. We hypothesized that there would be gaps in knowledge about ET and furthermore, that probands and AFRs would be the most knowledgeable, followed by unaffected relatives and then spouses of unaffected relatives, who would be the least knowledgeable.Overall, ET patients lacked knowledge about their disease. Nearly one-third of probands answered "yes" or "do not know" to the question, "is ET the same or different from the type of tremor that many normal people can get when they become old and frail?" A similar proportion did not know whether children could get ET or they responded "no." Nearly one-fourth of affecteds (i.e., probands and AFRs) did not know whether or to what degree (e.g., very well, moderately well, not well) the symptoms of ET could be medically controlled, and 38.0% either reported that there was no brain surgery for ET or reported that they did not know. Nearly 17% of affecteds did not endorse genes as a cause for ET, which was surprising given the fact that this was a family study of ET. Probands and AFRs were the most knowledgeable, followed by unaffected relatives. Spouses of unaffected relatives were the least knowledgeable.We targeted a large group of ET patients and their families, as this group is perhaps most likely to be informed about the disease. ET patients and their AFRs were more knowledgeable about the features of ET than their family members without ET. Overall, however, knowledge of ET was very limited and this lack of knowledge encompassed all aspects of the disease including its underlying causes, the nature of the symptoms and signs, its natural history and its treatment. Further ET awareness education and programs targeting both families of ET patients and the public would help alleviate this gap in knowledge.

Project description:BackgroundIn the present COVID-19 crisis, one of the greatest challenges for research funding at both the international and national level is selecting the best research topic to achieve efficiency and equity in health research and to address the knowledge gap urgently raised due to the event. Despite international recommendations, countries should consider their context-specific situation and define local research priorities. We aimed to exercise a priority-setting activity to identify the knowledge gaps and suggest research priorities in response to the COVID-19 epidemic in Iran.MethodsFirst, we tried to identify the contextual knowledge gaps based on an online survey, performing key informant interviews (i.e. health professionals, policy-makers and managers) and media analysis. We also performed a literature review and considered international research priorities for COVID-19. Subsequently, we prepared a list of research questions and challenges to respond to the COVID-19 crisis in Iran using a systems approach. Then we mapped approved COVID-19 research projects in the country to research questions. Finally, we compared the identified research questions (not challenges) with the prioritized research from international organizations and then prioritized them for Iran.ResultsWe found risk factors and epidemiological dissemination patterns of the virus and its consequences in an epidemiology domain, implementation of clinical and hygiene in a clinical management domain, genetic studies for targeting prevention and treatment in a candidate treatment and vaccine research and development (R&D) knowledge domain, examination of the manifestations of ethics in society instead of ethics in research in an ethics domain, "care, access and health system" and "public health and participation in response to public health and clinical research" as two sub-domains of a social sciences domain, and finally, no new questions in either the virology, transmission, diagnosis or animal and environmental domain.ConclusionsIn the event of global health crises like COVID-19, prioritization of research questions can be done globally, but some of the research priorities are context-specific and may vary by regional needs. To better manage research resources, researchers must respond to the challenges faced in each country based on its political, economic, social and cultural characteristics, and to make evidence-informed decisions, global knowledge gaps must be customized in each country.

Project description:Savannas are commonly described as a vegetation type with a grass layer interspersed with a discontinuous tree or shrub layer. On the contrary, forbs, a plant life form that can include any nongraminoid herbaceous vascular plant, are poorly represented in definitions of savannas worldwide. While forbs have been acknowledged as a diverse component of the herbaceous layer in savanna ecosystems and valued for the ecosystem services and functions they provide, they have not been the primary focus in most savanna vegetation studies. We performed a systematic review of scientific literature to establish the extent to which forbs are implicitly or explicitly considered as a discrete vegetation component in savanna research. The overall aims were to summarize knowledge on forb ecology, identify knowledge gaps, and derive new perspectives for savanna research and management with a special focus on arid and semiarid ecosystems in Africa. We synthesize and discuss our findings in the context of different overarching research themes: (a) functional organization and spatial patterning, (b) land degradation and range management, (c) conservation and reserve management, (d) resource use and forage patterning, and (e) germination and recruitment. Our results revealed biases in published research with respect to study origin (country coverage in Africa), climate (more semiarid than arid systems), spatial scale (more local than landscape scale), the level at which responses or resource potential was analyzed (primarily plant functional groups rather than species), and the focus on interactions between life forms (rather seldom between forbs and grasses and/or trees). We conclude that the understanding of African savanna community responses to drivers of global environmental change requires knowledge beyond interactions between trees and grasses only and beyond the plant functional group level. Despite multifaceted evidence of our current understanding of forbs in dry savannas, there appear to be knowledge gaps, specifically in linking drivers of environmental change to forb community responses. We therefore propose that more attention be given to forbs as an additional ecologically important plant life form in the conventional tree-grass paradigm of savannas.

Dataset Information

Knowledge gaps and research recommendations for essential tremor.

Publications

Knowledge gaps and research recommendations for essential tremor.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets