Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes

Ruth H. Walker, Adrian Danek, Carol DobsonStone, Renzo Guerrini, Hans H. Jung, Anne Louise Lafontaine, Luca Rampoldi, François Tison, Eva Andermann

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1794-1805
Number of pages12
JournalMovement Disorders
Volume21
Issue number11
DOIs
Publication statusPublished - Nov 2006

Keywords

  • Acanthocytosis
  • Chorea
  • Chorea-acanthocytosis
  • McLeod syndrome
  • Neuroacanthocytosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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