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Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed. However, chorein expression was absent or noticeably reduced in ChAc patient cells, but not McLeod syndrome and Huntington's disease cells. This suggests that loss of chorein expression is a diagnostic feature of ChAc.

Original publication

DOI

10.1002/ana.20200

Type

Journal article

Journal

Ann Neurol

Publication Date

08/2004

Volume

56

Pages

299 - 302

Keywords

Acanthocytes, Adrenoleukodystrophy, Blotting, Western, Cell Line, Chorea, DNA Mutational Analysis, Erythrocyte Membrane, Female, Gene Expression Regulation, Humans, Male, Mutation, Proteins, Vesicular Transport Proteins