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Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.
| Content Provider | Europe PMC |
|---|---|
| Author | 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. |
| Editor | Louis, Elan D. |
| Copyright Year | 2017 |
| 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. |
| Related Links | https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5313633&blobtype=pdf |
| Page Count | 7 |
| Journal | Tremor and Other Hyperkinetic Movements [Tremor Other Hyperkinet Mov (N Y)] |
| Volume Number | 7 |
| PubMed Central reference number | PMC5313633 |
| PubMed reference number | 28224046 |
| e-ISSN | 21608288 |
| DOI | 10.7916/d8xd127w |
| Language | English |
| Publisher | Columbia University Libraries/Information Services |
| Publisher Date | 2017-02-15 |
| Access Restriction | Open |
| Rights License | This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommerical–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original author and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed. © 2017 Pappas et al. |
| Subject Keyword | Chorea Acanthocytosis Neuroacanthocytosis VPS13 VPS13A Chorein |
| Content Type | Text |
| Resource Type | Article |
| Subject | Medicine |