Knowledge gaps and research recommendations for essential tremor

Franziska Hopfner, Dietrich Haubenberger, Wendy R. Galpern, Katrina Gwinn, Ashlee Van't Veer, Samantha White, Kailash Bhatia, Charles H. Adler, David Eidelberg, William Ondo, Glenn T. Stebbins, Caroline M. Tanner, Rick C. Helmich, Fred A. Lenz, Roy V. Sillitoe, David Vaillancourt, Jerrold L. Vitek, Elan D. Louis, Holly A. Shill, Matthew P. FroschTatiana Foroud, Gregor Kuhlenbäumer, Andrew Singleton, Claudia M. Testa, Mark Hallett, Rodger Elble, Günther Deuschl

Research output: Contribution to journalReview article

13 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)27-35
Number of pages9
JournalParkinsonism and Related Disorders
Volume33
DOIs
StatePublished - Dec 1 2016

Fingerprint

Essential Tremor
Research
National Institute of Neurological Disorders and Stroke
Exome
Phenotype
Genome-Wide Association Study
Tremor
Cerebellum
Biomarkers
Clinical Trials
Genome
Pathology
Mutation
Therapeutics
Genes

Keywords

  • Common data elements
  • Essential tremor
  • Genetic association studies
  • Neuropathology

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Hopfner, F., Haubenberger, D., Galpern, W. R., Gwinn, K., Van't Veer, A., White, S., ... Deuschl, G. (2016). Knowledge gaps and research recommendations for essential tremor. Parkinsonism and Related Disorders, 33, 27-35. https://doi.org/10.1016/j.parkreldis.2016.10.002

Knowledge gaps and research recommendations for essential tremor. / Hopfner, Franziska; Haubenberger, Dietrich; Galpern, Wendy R.; Gwinn, Katrina; Van't Veer, Ashlee; White, Samantha; Bhatia, Kailash; Adler, Charles H.; Eidelberg, David; Ondo, William; Stebbins, Glenn T.; Tanner, Caroline M.; Helmich, Rick C.; Lenz, Fred A.; Sillitoe, Roy V.; Vaillancourt, David; Vitek, Jerrold L.; Louis, Elan D.; Shill, Holly A.; Frosch, Matthew P.; Foroud, Tatiana; Kuhlenbäumer, Gregor; Singleton, Andrew; Testa, Claudia M.; Hallett, Mark; Elble, Rodger; Deuschl, Günther.

In: Parkinsonism and Related Disorders, Vol. 33, 01.12.2016, p. 27-35.

Research output: Contribution to journalReview article

Hopfner, F, Haubenberger, D, Galpern, WR, Gwinn, K, Van't Veer, A, White, S, Bhatia, K, Adler, CH, Eidelberg, D, Ondo, W, Stebbins, GT, Tanner, CM, Helmich, RC, Lenz, FA, Sillitoe, RV, Vaillancourt, D, Vitek, JL, Louis, ED, Shill, HA, Frosch, MP, Foroud, T, Kuhlenbäumer, G, Singleton, A, Testa, CM, Hallett, M, Elble, R & Deuschl, G 2016, 'Knowledge gaps and research recommendations for essential tremor', Parkinsonism and Related Disorders, vol. 33, pp. 27-35. https://doi.org/10.1016/j.parkreldis.2016.10.002
Hopfner F, Haubenberger D, Galpern WR, Gwinn K, Van't Veer A, White S et al. Knowledge gaps and research recommendations for essential tremor. Parkinsonism and Related Disorders. 2016 Dec 1;33:27-35. https://doi.org/10.1016/j.parkreldis.2016.10.002
Hopfner, Franziska ; Haubenberger, Dietrich ; Galpern, Wendy R. ; Gwinn, Katrina ; Van't Veer, Ashlee ; White, Samantha ; Bhatia, Kailash ; Adler, Charles H. ; Eidelberg, David ; Ondo, William ; Stebbins, Glenn T. ; Tanner, Caroline M. ; Helmich, Rick C. ; Lenz, Fred A. ; Sillitoe, Roy V. ; Vaillancourt, David ; Vitek, Jerrold L. ; Louis, Elan D. ; Shill, Holly A. ; Frosch, Matthew P. ; Foroud, Tatiana ; Kuhlenbäumer, Gregor ; Singleton, Andrew ; Testa, Claudia M. ; Hallett, Mark ; Elble, Rodger ; Deuschl, Günther. / Knowledge gaps and research recommendations for essential tremor. In: Parkinsonism and Related Disorders. 2016 ; Vol. 33. pp. 27-35.
@article{b26fb03fad0e4e8ea9aaf86df813e2e5,
title = "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.",
keywords = "Common data elements, Essential tremor, Genetic association studies, Neuropathology",
author = "Franziska Hopfner and Dietrich Haubenberger and Galpern, {Wendy R.} and Katrina Gwinn and {Van't Veer}, Ashlee and Samantha White and Kailash Bhatia and Adler, {Charles H.} and David Eidelberg and William Ondo and Stebbins, {Glenn T.} and Tanner, {Caroline M.} and Helmich, {Rick C.} and Lenz, {Fred A.} and Sillitoe, {Roy V.} and David Vaillancourt and Vitek, {Jerrold L.} and Louis, {Elan D.} and Shill, {Holly A.} and Frosch, {Matthew P.} and Tatiana Foroud and Gregor Kuhlenb{\"a}umer and Andrew Singleton and Testa, {Claudia M.} and Mark Hallett and Rodger Elble and G{\"u}nther Deuschl",
year = "2016",
month = "12",
day = "1",
doi = "10.1016/j.parkreldis.2016.10.002",
language = "English (US)",
volume = "33",
pages = "27--35",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",

}

TY - JOUR

T1 - Knowledge gaps and research recommendations for essential tremor

AU - Hopfner, Franziska

AU - Haubenberger, Dietrich

AU - Galpern, Wendy R.

AU - Gwinn, Katrina

AU - Van't Veer, Ashlee

AU - White, Samantha

AU - Bhatia, Kailash

AU - Adler, Charles H.

AU - Eidelberg, David

AU - Ondo, William

AU - Stebbins, Glenn T.

AU - Tanner, Caroline M.

AU - Helmich, Rick C.

AU - Lenz, Fred A.

AU - Sillitoe, Roy V.

AU - Vaillancourt, David

AU - Vitek, Jerrold L.

AU - Louis, Elan D.

AU - Shill, Holly A.

AU - Frosch, Matthew P.

AU - Foroud, Tatiana

AU - Kuhlenbäumer, Gregor

AU - Singleton, Andrew

AU - Testa, Claudia M.

AU - Hallett, Mark

AU - Elble, Rodger

AU - Deuschl, Günther

PY - 2016/12/1

Y1 - 2016/12/1

N2 - 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.

AB - 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.

KW - Common data elements

KW - Essential tremor

KW - Genetic association studies

KW - Neuropathology

UR - http://www.scopus.com/inward/record.url?scp=85004008265&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85004008265&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2016.10.002

DO - 10.1016/j.parkreldis.2016.10.002

M3 - Review article

C2 - 27769649

AN - SCOPUS:85004008265

VL - 33

SP - 27

EP - 35

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

ER -