Fourth International Symposium on Neuroacanthocytosis

Abstracts from the Fourth International Symposium on Neuroacanthocytosis

July 1-2, 2008
London and Oxford

Chairs: Prof. Kailash Bhatia, MD, FRCP, Institute of Neurology, University College London; Prof. Anthony P. Monaco, MD, PhD, Wellcome Trust Centre for Human Genetics, University of Oxford

Organizers: Antonio Velayos-Baeza, PhD; Susanne Schneider, MD; Glenn Irvine

4-4 Chorein (VPS13A) state and proteome analysis in chorea-acanthocytosis red blood cells
M. Nakamura, M. Matsuda, N. Kohno, and A. Sano
Dept. of Psychiatry, Kagoshima University, Kagoshima, Japan

Chorea-acanthocytosis (ChAc) is an autosomal recessive disorder characterized by striatal degeneration and erythrocyte acanthocytosis. Loss of function mutations in VPS13A gene, coding a large protein, chorein, cause ChAc. In the present study, we performed parallel proteomic analysis of protein expression in erythrocyte membrane of a ChAc patient. We found decreased or increased protein levels of several proteins, some of which are involved in the assembly of specrin-actin network in erythrocytes. Recently, we produced a ChAc model mouse which shows the striatal neurodegeneration. Subsequently, we performed immunoblot and immunohistochemical analyses in the striatum of the ChAc model mouse. Consistent results were obtained from the experiments using ChAc patient's erythrocyte and brain striatum of model mice, suggesting the existence of a common pathway leading to acanthocytosis and neurodegeneration.