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Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes

✍ Scribed by Ruth H. Walker; Adrian Danek; Carol Dobson-Stone; Renzo Guerrini; Hans H. Jung; Anne-Louise Lafontaine; Luca Rampoldi; François Tison; Eva Andermann

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
172 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

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 mech‐ anisms 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. © 2006 Movement Disorder Society

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