Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes

Mov Disord. 2006 Nov;21(11):1794-805. doi: 10.1002/mds.21108.

Abstract

As with other neurodegenerative disorders, research into the group of diseases known under the umbrella term of "neuroacanthocytosis" has greatly benefited from the identification of causative genes. The distinct and unifying aspect of these disorders is the presence of thorny deformations of circulating erythrocytes. This may be due to abnormal properties of red cell membranes, which could lead to insights into mechanisms of neurodegeneration. Research approaches in this field, in addition to examining functions and protein interactions of the affected proteins with particular respect to neurons, have also drawn upon the expertise of hematologists and red cell membrane biologists. In this article, recent developments in the field are presented.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chorea / genetics
  • Chorea / history
  • Chorea / pathology
  • Chorea / physiopathology*
  • Chorea / therapy
  • Disease Models, Animal
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Lung, Hyperlucent / genetics
  • Lung, Hyperlucent / pathology
  • Lung, Hyperlucent / physiopathology*
  • Lung, Hyperlucent / therapy
  • Magnetic Resonance Imaging / methods
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / history
  • Neurodegenerative Diseases / physiopathology*
  • Neurodegenerative Diseases / therapy
  • Vesicular Transport Proteins / genetics

Substances

  • VPS13A protein, human
  • Vesicular Transport Proteins