Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes

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 circul...

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Bibliographic Details
Published in:Movement disorders 2006-11, Vol.21 (11), p.1794-1805
Main Authors: Walker, Ruth H., Danek, Adrian, Dobson-Stone, Carol, Guerrini, Renzo, Jung, Hans H., Lafontaine, Anne-Louise, Rampoldi, Luca, Tison, François, Andermann, Eva
Format: Article
Language:English
Subjects:
acanthocytosis
Animals
Biological and medical sciences
chorea
Chorea - genetics
Chorea - history
Chorea - pathology
Chorea - physiopathology
Chorea - therapy
chorea-acanthocytosis
Development. Senescence. Regeneration. Transplantation
Disease Models, Animal
Fundamental and applied biological sciences. Psychology
History, 20th Century
History, 21st Century
Humans
Lung, Hyperlucent - genetics
Lung, Hyperlucent - pathology
Lung, Hyperlucent - physiopathology
Lung, Hyperlucent - therapy
Magnetic Resonance Imaging - methods
Malformations of the nervous system
McLeod syndrome
Medical sciences
neuroacanthocytosis
Neurodegenerative Diseases - genetics
Neurodegenerative Diseases - history
Neurodegenerative Diseases - physiopathology
Neurodegenerative Diseases - therapy
Neurology
Vertebrates: nervous system and sense organs
Vesicular Transport Proteins - genetics
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Summary: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
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.21108