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 articlepeer-review

28 Scopus citations

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

Bibliographical note

Funding Information:
Jerrold Vitek has received consulting fees and honoraria from Medtronic, Boston Scientific, Great Lakes Neuro Technologies and St. Jude Medical, and he has stock ownership in Surgical Information Systems. He receives research support from the National Institutes of Health NINDS R01 NS058945 (principal investigator), NINDS R01 NS037019 (principal investigator) and NINDS R01 NS077657 (principal investigator).

Funding Information:
Charles Adler has received consulting fees from Allergan, AbbVie, Acadia, Ipsen, Lilly, Lundbeck, Merz, and Teva, and received research funding from Avid Radiopharmaceuticals, the Michael J Fox Foundation for Parkinson's Research, and the NIH/NINDS.

Funding Information:
Tatiana Foroud has received grant support from the National Institutes of Health: U24AG021886 and U24NS095871.

Funding Information:
Elan Louis has received research support from the National Institutes of Health: NINDS R01 NS042859 (principal investigator), NINDS R01 NS39422 (principal investigator), NINDS R01 NS086736 (principal investigator), NINDS R01 NS073872 (principal investigator), NINDS R01 NS085136 (principal investigator) and NINDS R01 NS088257 (principal investigator).

Funding Information:
Glenn Stebbins has received honoraria from Acadia Pharmaceuticals, Adamas Pharmaceuticals, Ceregene Inc., CHDI Management, Ingenix Pharmaceutical Services (i3 Research), Neurocrine Biosciences, Pfizer, International Parkinson and Movement Disorder Society, American Academy of Neurology, Michael J. Fox Foundation for Parkinson's Research. He has received research grants from the National Institutes of Health, Michael J. Fox Foundation for Parkinson's Research, the Dystonia Coalition, CHDI, International Parkinson and Movement Disorder Society, and CBD Solutions.

Funding Information:
Rick Helmich has received grant support from the Dutch Brain Foundation.

Funding Information:
Holly Shill received research support from NIH, US World Meds, Sun Health Foundation, Michael J Fox Foundation for Parkinson Research, Adamas, Kyowa, Cynapsus, International Essential Tremor Foundation, and Avid Radiopharmaceuticals.

Funding Information:
Claudia Testa is employed by Virginia Commonwealth University (VCU). She has received honoraria from MedLink Neurology, the Society for Neuroscience, and Lundbeck Pharmaceuticals. She is the Co-principal investigator (PI) on two clinical trials with the Huntington Study Group and Auspex Pharmaceuticals. Dr. Testa is the VCU site PI for the Enroll-HD study sponsored by the non-profit CHDI Foundation, the PRIDE-HD and Open PRIDE-HD studies sponsored by Teva Pharmaceuticals, and the Dystonia Coalition study, funded under NIH/NORD grant 5 U54 NS065701.

Funding Information:
Kailash P Bhatia received funding for travel from GlaxoSmithKline, Orion Corporation, Ipsen, and Merz Pharmaceuticals, LLC; serves on the editorial boards of Movement Disorders and Therapeutic Advances in Neurological Disorders; receives royalties from the publication of Oxford Specialist Handbook of Parkinson's Disease and Other Movement Disorders (Oxford University Press, 2008); received speaker honoraria from GlaxoSmithKline, Ipsen, Merz Pharmaceuticals, LLC, and Sun Pharmaceutical Industries Ltd.; personal compensation for scientific advisory board for GSK and Boehringer Ingelheim; received research support from Ipsen and from the Halley Stewart Trust through Dystonia Society UK, and the Wellcome Trust MRC strategic neurodegenerative disease initiative award (Ref. number WT089698), a grant from the Dystonia Coalition and a grant from Parkinson's UK (Ref. number G-1009).; co-applicant PD UK grant K-1303, “Single-center open label exploratory phase two pilot study of exogenous oral Melatonin for the treatment of Nocturia in Parkinson's disease”

Funding Information:
Gregor Kuhlenbäumer received project grants from the Deutsche Forschungsgemeinschaft (DFG), the University of Kiel, the University of Münster, the Heinrich-Hertz Foundation and the Rolfs-Dierich Foundation.

Funding Information:
Roy Sillitoe received grant support from Baylor College of Medicine, IDDRC Grant U54HD083092, NINDS R01 NS089664.

Funding Information:
David Vaillancourt has received grant support from NIH (R01 NS058487, R01 NS075012), Bachmann-Strauss Foundation, Tyler's Hope Foundation, and consults for projects at UT Southwestern Medical Center, University of Illinois at Chicago, Scott & White, and Great Lakes NeuroTechnologies. He is co-founder and manager of Neuroimaging Solutions, LLC.

Funding Information:
Rodger Elble receives research grant support from the Spastic Paralysis Research Foundation of Kiwanis International, Illinois-Eastern Iowa District, and he received consulting fees from Sage Therapeutics. He was also paid by InSightec to rate videotaped exams of patients undergoing thalamotomy with high-intensity focussed ultrasound.

Funding Information:
William Ondo has received speaker fees from Lundbeck, TEVA, Merz, Xenoport, Avanir, Otsuka; advisory fees from Lundbeck, ACADIA, Xenoport, InSightec, TEVA and Sage; and grant support from Lundbeck, Tremor Research Group, CIVITAS, and the Dystonia Coalition.

Funding Information:
Dr. Eidelberg serves on the scientific advisory board and has received honoraria from the Michael J. Fox Foundation for Parkinson's Research; is listed as coinventor of patents re: Markers for use in screening patients for nervous system dysfunction and a method and apparatus for using same, without financial gain; and has received research support from the NIH (NINDS, NIDCD, NIAID) and the Dana Foundation.

Funding Information:
Andrew Singleton receives funding from the Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services. Project ZO1 AG000957 (ABS).

Publisher Copyright:
© 2016 Elsevier Ltd

Keywords

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

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