Eighth International Chorea–Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points
Year: 2016
Type: article
Abstract: Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on molecular mechanisms driving ChAc pathophysiology. Accompanying the meeting, members of the neuroacanthocytosis research community and other invited scientists met in a workshop to discuss the current understanding and next steps needed to better understand ChAc pathogenesis. These discussions identified several broad and critical needs for advancing ChAc research and patient care, and led to the definition of 18 specific action points related to functional and molecular studies, animal models, and clinical research. These action points, described below, represent tractable research goals to pursue for the next several years.
Source: Europe PMC (PubMed Central)
DOI: 10.7916/d8xd127w
Authors: Pappas, Samuel S, Bonifacino, Juan, Danek, Adrian, Dauer, William T, De, Mithu, De Franceschi, Lucia, DiPaolo, Gilbert, Fuller, Robert, Haucke, Volker, Hermann, Andreas, Kornmann, Benoit, Landwehrmeyer, Bernhard, Levin, Johannes, Neiman, Aaron M, Rudnicki, Dobrila D, Sibon, Ody, Velayos-Baeza, Antonio, Vonk, Jan J, Walker, Ruth H, Weisman, Lois S, Albin, Roger L
Institutions: University of Michigan, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Ludwig-Maximilians-Universität München, VA Ann Arbor Healthcare System, Michigan Medicine, University of Verona, Azienda Ospedaliera Universitaria Integrata Verona, Denali Therapeutics (United States), Leibniz-Forschungsinstitut für Molekulare Pharmakologie, German Center for Neurodegenerative Diseases (DZNE) Dresden, Technische Universität Dresden, ETH Zurich, Institute of Biochemistry, Universität Ulm, German Center for Neurodegenerative Diseases, Stony Brook University, Johns Hopkins University, University Medical Center Groningen, University of Groningen, Centre for Human Genetics, James J. Peters VA Medical Center, Icahn School of Medicine at Mount Sinai
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2592036044