Knowledge gaps and research recommendations for essential tremor

Franziska Hopfner¹, Dietrich Haubenberger², Wendy R Galpern³, Katrina Gwinn³, Ashlee Van't Veer³, Samantha White³, Kailash Bhatia⁴, Charles H Adler⁵, David Eidelberg⁶, William Ondo⁷, Glenn T Stebbins⁸, Caroline M Tanner⁹, Rick C Helmich¹⁰, Fred A Lenz¹¹, Roy V Sillitoe¹², David Vaillancourt¹³, Jerrold L Vitek¹⁴, Elan D Louis¹⁵, Holly A Shill¹⁶, Matthew P Frosch¹⁷, Tatiana Foroud¹⁸, Gregor Kuhlenbäumer¹, Andrew Singleton¹⁹, Claudia M Testa²⁰, Mark Hallett³, Rodger Elble²¹, Günther Deuschl¹

Affiliations

¹ Department of Neurology, University Hospital Schleswig Holstein, Kiel, Germany.
² National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Electronic address: dietrich.haubenberger@nih.gov.
³ National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
⁴ Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College of London, United Kingdom.
⁵ Mayo Clinic College of Medicine, Mayo Clinic Arizona, Scottsdale, AZ, USA.
⁶ The Feinstein Institute for Medical Research, Manhasset, NY, USA.
⁷ Methodist Neurological Institute, Houston, TX, USA.
⁸ Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
⁹ Parkinson's Disease Research Education & Clinical Center, San Francisco Veterans Affairs Medical Center & Department of Neurology, University of California San Francisco, CA, USA.
¹⁰ Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Neurology, Nijmegen, The Netherlands.
¹¹ Department of Neurosurgery, Hopkins Hospital, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
¹² Department of Pathology & Immunology, Department of Neuroscience, Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.
¹³ Department of Applied Physiology and Kinesiology, Center for Movement Disorders and Neurorestoration, Department of Biomedical Engineering, University of Florida, Gainesville, FL, USA.
¹⁴ Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
¹⁵ Department of Neurology, Department of Chronic Disease Epidemiology, Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine, Yale University, New Haven, CT, USA.
¹⁶ Department of Neurology, Barrow Neurological Institute, Phoenix, AZ, USA.
¹⁷ C.S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital, Boston, MA, USA.
¹⁸ Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
¹⁹ Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
²⁰ Parkinson's and Movement Disorders Center and Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
²¹ Department of Neurology, Southern Illinois University School of Medicine, Springfield, IL, USA.

PMID: 27769649
PMCID: PMC5271603
DOI: 10.1016/j.parkreldis.2016.10.002

Review

Knowledge gaps and research recommendations for essential tremor

Franziska Hopfner et al. Parkinsonism Relat Disord. 2016 Dec.

. 2016 Dec:33:27-35.

doi: 10.1016/j.parkreldis.2016.10.002. Epub 2016 Oct 4.

Authors

Affiliations

¹ Department of Neurology, University Hospital Schleswig Holstein, Kiel, Germany.
² National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Electronic address: dietrich.haubenberger@nih.gov.
³ National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
⁴ Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College of London, United Kingdom.
⁵ Mayo Clinic College of Medicine, Mayo Clinic Arizona, Scottsdale, AZ, USA.
⁶ The Feinstein Institute for Medical Research, Manhasset, NY, USA.
⁷ Methodist Neurological Institute, Houston, TX, USA.
⁸ Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
⁹ Parkinson's Disease Research Education & Clinical Center, San Francisco Veterans Affairs Medical Center & Department of Neurology, University of California San Francisco, CA, USA.
¹⁰ Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Neurology, Nijmegen, The Netherlands.
¹¹ Department of Neurosurgery, Hopkins Hospital, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
¹² Department of Pathology & Immunology, Department of Neuroscience, Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.
¹³ Department of Applied Physiology and Kinesiology, Center for Movement Disorders and Neurorestoration, Department of Biomedical Engineering, University of Florida, Gainesville, FL, USA.
¹⁴ Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
¹⁵ Department of Neurology, Department of Chronic Disease Epidemiology, Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine, Yale University, New Haven, CT, USA.
¹⁶ Department of Neurology, Barrow Neurological Institute, Phoenix, AZ, USA.
¹⁷ C.S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital, Boston, MA, USA.
¹⁸ Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
¹⁹ Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
²⁰ Parkinson's and Movement Disorders Center and Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA.
²¹ Department of Neurology, Southern Illinois University School of Medicine, Springfield, IL, USA.

PMID: 27769649
PMCID: PMC5271603
DOI: 10.1016/j.parkreldis.2016.10.002

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.

Keywords: Common data elements; Essential tremor; Genetic association studies; Neuropathology.

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References

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Knowledge gaps and research recommendations for essential tremor

Affiliations

Knowledge gaps and research recommendations for essential tremor

Authors

Affiliations

Abstract

References

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MeSH terms

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Full Text Sources

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Medical