title: Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.
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.
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Samuel S
authors.initials: SS
authors.lastname: Pappas
authors.affiliation: Cell Biology and Neurobiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Juan
authors.initials: J
authors.lastname: Bonifacino
authors.affiliation: Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany.
authors.forename: Adrian
authors.initials: A
authors.lastname: Danek
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, MI, USA; Neurology Service, VAAAHS, University of Michigan, Ann Arbor, MI, USA; Udall Centre, University of Michigan, Ann Arbor, MI, USA; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.
authors.forename: William T
authors.initials: WT
authors.lastname: Dauer
authors.affiliation: Department of Biological Chemistry, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Mithu
authors.initials: M
authors.lastname: De
authors.affiliation: Department of Medicine, University of Verona and Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: De Franceschi
authors.affiliation: Denali Therapeutics, San Francisco, CA, USA.
authors.forename: Gilbert
authors.initials: G
authors.lastname: DiPaolo
authors.affiliation: Department of Biological Chemistry, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Fuller
authors.affiliation: Department of Molecular Pharmacology and Cell Biology, Leibniz Institut für Molekulare Pharmakologie, Berlin, Germany.
authors.forename: Volker
authors.initials: V
authors.lastname: Haucke
authors.affiliation: Department of Neurology, Technische Universität, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hermann
authors.affiliation: Institute of Biochemistry, ETH, Zurich, Switzerland.
authors.forename: Benoit
authors.initials: B
authors.lastname: Kornmann
authors.affiliation: Department of Neurology, University of Ulm, Ulm, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Landwehrmeyer
authors.affiliation: Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Levin
authors.affiliation: Department of Biochemistry and Cell Biology, Stony Brook University, New York, NY, USA.
authors.forename: Aaron M
authors.initials: AM
authors.lastname: Neiman
authors.affiliation: Department of Psychiatry, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Dobrila D
authors.initials: DD
authors.lastname: Rudnicki
authors.affiliation: Department of Cell Biology, University Medical Center Groningen, University of Groningen, Gronigen, The Netherlands.
authors.forename: Ody
authors.initials: O
authors.lastname: Sibon
authors.affiliation: The Wellcome Trust Centre for Human Genetics, Oxford, UK.
authors.forename: Antonio
authors.initials: A
authors.lastname: Velayos-Baeza
authors.affiliation: Department of Cell Biology, University Medical Center Groningen, University of Groningen, Gronigen, The Netherlands.
authors.forename: Jan J
authors.initials: JJ
authors.lastname: Vonk
authors.affiliation: Department of Neurology, James J. Peters VAMC, Bronx, NY, USA; Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA.
authors.forename: Ruth H
authors.initials: RH
authors.lastname: Walker
authors.affiliation: Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Lois S
authors.initials: LS
authors.lastname: Weisman
authors.affiliation: Department of Neurology, University of Michigan, Ann Arbor, MI, USA; Neurology Service, VAAAHS, University of Michigan, Ann Arbor, MI, USA; Udall Centre, University of Michigan, Ann Arbor, MI, USA; GRECC, VAAAHS, University of Michigan, Ann Arbor, MI, USA,; Michigan Alzheimer's Disease Center, University of Michigan, Ann Arbor, MI, USA.
authors.forename: Roger L
authors.initials: RL
authors.lastname: Albin
keywords: Chorea Acanthocytosis; Chorein; Neuroacanthocytosis; VPS13; VPS13A