TY - JOUR
T1 - Defining research priorities in dystonia
AU - Lungu, Codrin
AU - Ozelius, Laurie
AU - Standaert, David
AU - Hallett, Mark
AU - Sieber, Beth Anne
AU - Swanson-Fisher, Christine
AU - Berman, Brian D.
AU - Calakos, Nicole
AU - Moore, Jennifer C.
AU - Perlmutter, Joel S.
AU - Pirio Richardson, Sarah E.
AU - Saunders-Pullman, Rachel
AU - Scheinfeldt, Laura
AU - Sharma, Nutan
AU - Sillitoe, Roy
AU - Simonyan, Kristina
AU - Starr, Philip A.
AU - Taylor, Anna
AU - Vitek, Jerrold
AU - Lungu, Codrin
N1 - Publisher Copyright:
© American Academy of Neurology.
PY - 2020/3/24
Y1 - 2020/3/24
N2 - ObjectiveDystonia is a complex movement disorder. Research progress has been difficult, particularly in developing widely effective therapies. This is a review of the current state of knowledge, research gaps, and proposed research priorities.MethodsThe NIH convened leaders in the field for a 2-day workshop. The participants addressed the natural history of the disease, the underlying etiology, the pathophysiology, relevant research technologies, research resources, and therapeutic approaches and attempted to prioritize dystonia research recommendations.ResultsThe heterogeneity of dystonia poses challenges to research and therapy development. Much can be learned from specific genetic subtypes, and the disorder can be conceptualized along clinical, etiology, and pathophysiology axes. Advances in research technology and pooled resources can accelerate progress. Although etiologically based therapies would be optimal, a focus on circuit abnormalities can provide a convergent common target for symptomatic therapies across dystonia subtypes. The discussions have been integrated into a comprehensive review of all aspects of dystonia.ConclusionOverall research priorities include the generation and integration of high-quality phenotypic and genotypic data, reproducing key features in cellular and animal models, both of basic cellular mechanisms and phenotypes, leveraging new research technologies, and targeting circuit-level dysfunction with therapeutic interventions. Collaboration is necessary both for collection of large data sets and integration of different research methods.
AB - ObjectiveDystonia is a complex movement disorder. Research progress has been difficult, particularly in developing widely effective therapies. This is a review of the current state of knowledge, research gaps, and proposed research priorities.MethodsThe NIH convened leaders in the field for a 2-day workshop. The participants addressed the natural history of the disease, the underlying etiology, the pathophysiology, relevant research technologies, research resources, and therapeutic approaches and attempted to prioritize dystonia research recommendations.ResultsThe heterogeneity of dystonia poses challenges to research and therapy development. Much can be learned from specific genetic subtypes, and the disorder can be conceptualized along clinical, etiology, and pathophysiology axes. Advances in research technology and pooled resources can accelerate progress. Although etiologically based therapies would be optimal, a focus on circuit abnormalities can provide a convergent common target for symptomatic therapies across dystonia subtypes. The discussions have been integrated into a comprehensive review of all aspects of dystonia.ConclusionOverall research priorities include the generation and integration of high-quality phenotypic and genotypic data, reproducing key features in cellular and animal models, both of basic cellular mechanisms and phenotypes, leveraging new research technologies, and targeting circuit-level dysfunction with therapeutic interventions. Collaboration is necessary both for collection of large data sets and integration of different research methods.
UR - http://www.scopus.com/inward/record.url?scp=85082342443&partnerID=8YFLogxK
U2 - 10.1212/WNL.0000000000009140
DO - 10.1212/WNL.0000000000009140
M3 - Article
C2 - 32098856
AN - SCOPUS:85082342443
SN - 0028-3878
VL - 94
SP - 526
EP - 537
JO - Neurology
JF - Neurology
IS - 12
ER -