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
N1 - 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:
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:
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
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
SN - 1353-8020
VL - 33
SP - 27
EP - 35
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -