Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points

Samuel S Pappas; Juan Bonifacino; Adrian Danek; William T Dauer; Mithu De; Lucia De Franceschi; Gilbert DiPaolo; Robert Fuller; Volker Haucke; Andreas Hermann; Benoit Kornmann; Bernhard Landwehrmeyer; Johannes Levin; Aaron M Neiman; Dobrila D Rudnicki; Ody Sibon; Antonio Velayos-Baeza; Jan J Vonk; Ruth H Walker; Lois S Weisman; Roger L Albin

doi:10.7916/D8XD127W

Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points

Tremor Other Hyperkinet Mov (N Y). 2017 Feb 15:7:428. doi: 10.7916/D8XD127W. eCollection 2017.

Authors

Samuel S Pappas¹, Juan Bonifacino², Adrian Danek³, William T Dauer⁴, Mithu De⁵, Lucia De Franceschi⁶, Gilbert DiPaolo⁷, Robert Fuller⁵, Volker Haucke⁸, Andreas Hermann⁹, Benoit Kornmann¹⁰, Bernhard Landwehrmeyer¹¹, Johannes Levin¹², Aaron M Neiman¹³, Dobrila D Rudnicki¹⁴, Ody Sibon¹⁵, Antonio Velayos-Baeza¹⁶, Jan J Vonk¹⁵, Ruth H Walker¹⁷, Lois S Weisman¹⁸, Roger L Albin¹⁹

Affiliations

¹ Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
² Cell Biology and Neurobiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
³ Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany.
⁴ 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.
⁵ Department of Biological Chemistry, University of Michigan, Ann Arbor, MI, USA.
⁶ Department of Medicine, University of Verona and Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
⁷ Denali Therapeutics, San Francisco, CA, USA.
⁸ Department of Molecular Pharmacology and Cell Biology, Leibniz Institut für Molekulare Pharmakologie, Berlin, Germany.
⁹ Department of Neurology, Technische Universität, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany.
¹⁰ Institute of Biochemistry, ETH, Zurich, Switzerland.
¹¹ Department of Neurology, University of Ulm, Ulm, Germany.
¹² Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
¹³ Department of Biochemistry and Cell Biology, Stony Brook University, New York, NY, USA.
¹⁴ Department of Psychiatry, Johns Hopkins University, Baltimore, MD, USA.
¹⁵ Department of Cell Biology, University Medical Center Groningen, University of Groningen, Gronigen, The Netherlands.
¹⁶ The Wellcome Trust Centre for Human Genetics, Oxford, UK.
¹⁷ Department of Neurology, James J. Peters VAMC, Bronx, NY, USA; Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA.
¹⁸ Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.
¹⁹ 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.

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.

Keywords: Chorea Acanthocytosis; Chorein; Neuroacanthocytosis; VPS13; VPS13A.

Abstract

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