Chorein detection for the diagnosis of chorea-acanthocytosis.
Dobson-Stone C,
Velayos-Baeza A,
Filippone LA,
Westbury S,
Storch A,
Erdmann T,
Wroe SJ,
Leenders KL,
Lang AE,
Dotti MT,
Federico A,
Mohiddin SA,
Fananapazir L,
Daniels G,
Danek A,
Monaco AP.
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
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. Copyright 2004 American Neurological Association
PMID: 15293285 [PubMed - indexed for MEDLINE]