Document Detail

Chorein detection for the diagnosis of chorea-acanthocytosis.
MedLine Citation:
PMID:  15293285     Owner:  NLM     Status:  MEDLINE    
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.
Carol Dobson-Stone; Antonio Velayos-Baeza; Lea A Filippone; Sarah Westbury; Alexander Storch; Torsten Erdmann; Stephen J Wroe; Klaus L Leenders; Anthony E Lang; Maria Teresa Dotti; Antonio Federico; Saidi A Mohiddin; Lameh Fananapazir; Geoff Daniels; Adrian Danek; Anthony P Monaco
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of neurology     Volume:  56     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  2004 Aug 
Date Detail:
Created Date:  2004-08-04     Completed Date:  2004-09-20     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  299-302     Citation Subset:  IM    
Copyright Information:
Copyright 2004 American Neurological Association
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
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MeSH Terms
Acanthocytes / pathology*
Adrenoleukodystrophy / genetics,  metabolism
Blotting, Western / methods
Cell Line
Chorea / diagnosis*,  genetics,  pathology
DNA Mutational Analysis / methods
Erythrocyte Membrane / metabolism
Gene Expression Regulation
Proteins / analysis*,  genetics
Vesicular Transport Proteins
Reg. No./Substance:
0/Proteins; 0/VPS13A protein, human; 0/Vesicular Transport Proteins

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