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. (c) 2006 Movement Disorder Society
Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes / Walker RH; Danek A; Dobson-Stone C; Guerrini R; Jung HH; Lafontaine AL; Rampoldi L; Tison F; Andermann E.. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - STAMPA. - 21 (11):(2006), pp. 1794-1805. [10.1002/mds.21108]
Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes.
GUERRINI, RENZO;
2006
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. (c) 2006 Movement Disorder SocietyI documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.