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Chorein detection for the diagnosis of chorea‐acanthocytosis
Author(s) -
DobsonStone Carol,
VelayosBaeza Antonio,
Filippone Lea A.,
Westbury Sarah,
Storch Alexander,
Erdmann Torsten,
Wroe Stephen J.,
Leenders Klaus L.,
Lang Anthony E.,
Dotti Maria Teresa,
Federico Antonio,
Mohiddin Saidi A.,
Fananapazir Lameh,
Daniels Geoff,
Danek Adrian,
Monaco Anthony P.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20200
Subject(s) - chorea , disease , medicine , huntington's disease , pathology , neuroscience , biology
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. Ann Neurol 2004;56:299–302