Neuropathology of chorea-acanthocytosis

Abstract

General neuropathology in chorea-acanthocytosis (ChAc) is marked by a striking decrease in neurons, predominantly in the striatum, accompanied by a strong reactive gliosis and microglial activation, even more distinctive than that found in Huntington's disease patients. These findings correlate with an impressive macroscopic atrophy of cortical and subcortical structures in ChAc. In Western blot analysis of unaffected brain tissue, chorein expression is ubiquitous. Interestingly, additional bands corresponding to proteins of approximately 160 kDa and 94 kDa comprising chorein N-terminal structures appear in brain as well as in several peripheral tissues. Furthermore, chorein is found at a high degree in testis and erythrocytes and at lower levels in muscle.