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. WeismanRoger L. Albin

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish (US)
JournalTremor and Other Hyperkinetic Movements
Volume7
DOIs
StatePublished - Jan 1 2017
Externally publishedYes

Fingerprint

Neuroacanthocytosis
Education
Research
Dyskinesias
Nervous System Diseases
Patient Care
Animal Models
Erythrocytes
Pathology

Keywords

  • Chorea acanthocytosis
  • Chorein
  • Neuroacanthocytosis
  • VPS13
  • VPS13A

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Eighth international chorea-acanthocytosis symposium : Summary of workshop discussion and action points. / 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.

In: Tremor and Other Hyperkinetic Movements, Vol. 7, 01.01.2017.

Research output: Contribution to journalArticle

Pappas, SS, Bonifacino, J, Danek, A, Dauer, WT, De, M, De Franceschi, L, DiPaolo, G, Fuller, R, Haucke, V, Hermann, A, Kornmann, B, Landwehrmeyer, B, Levin, J, Neiman, AM, Rudnicki, DD, Sibon, O, Velayos-Baeza, A, Vonk, JJ, Walker, RH, Weisman, LS & Albin, RL 2017, 'Eighth international chorea-acanthocytosis symposium: Summary of workshop discussion and action points', Tremor and Other Hyperkinetic Movements, vol. 7. https://doi.org/10.7916/D8XD127W
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. / Eighth international chorea-acanthocytosis symposium : Summary of workshop discussion and action points. In: Tremor and Other Hyperkinetic Movements. 2017 ; Vol. 7.
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