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 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.
Walker
Ruth H
RH
Department of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY 10468, USA. ruth.walker@mssm.edu
Danek
Adrian
A
Dobson-Stone
Carol
C
Guerrini
Renzo
R
Jung
Hans H
HH
Lafontaine
Anne-Louise
AL
Rampoldi
Luca
L
Tison
François
F
Andermann
Eva
E
D000818:Animals; D002819:Chorea / Q000235:genetics / Q000266:history / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D004195:Disease Models, Animal; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D019568:Lung, Hyperlucent / Q000235:genetics / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D008279:Magnetic Resonance Imaging / Q000379:methods; D019636:Neurodegenerative Diseases / Q000235:genetics / Q000266:history / Q000503:physiopathology* / Q000628:therapy; D033921:Vesicular Transport Proteins / Q000235:genetics
C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins