TY - JOUR
T1 - Eighth international chorea-acanthocytosis symposium
T2 - Summary of workshop discussion and action points
AU - Pappas, Samuel S.
AU - Bonifacino, Juan
AU - Danek, Adrian
AU - Dauer, William T.
AU - De, Mithu
AU - De Franceschi, Lucia
AU - DiPaolo, Gilbert
AU - Fuller, Robert
AU - Haucke, Volker
AU - Hermann, Andreas
AU - Kornmann, Benoit
AU - Landwehrmeyer, Bernhard
AU - Levin, Johannes
AU - Neiman, Aaron M.
AU - Rudnicki, Dobrila D.
AU - Sibon, Ody
AU - Velayos-Baeza, Antonio
AU - Vonk, Jan J.
AU - Walker, Ruth H.
AU - Weisman, Lois S.
AU - Albin, Roger L.
N1 - Publisher Copyright:
© 2017 Pappas et al.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Chorea acanthocytosis
KW - Chorein
KW - Neuroacanthocytosis
KW - VPS13
KW - VPS13A
UR - https://www.scopus.com/pages/publications/85018480846
U2 - 10.7916/D8XD127W
DO - 10.7916/D8XD127W
M3 - Article
AN - SCOPUS:85018480846
SN - 2160-8288
VL - 7
JO - Tremor and Other Hyperkinetic Movements
JF - Tremor and Other Hyperkinetic Movements
ER -