Chorein detection for the diagnosis of chorea-acanthocytosis

• Published in: Annals of neurology Vol. 56; no. 2; pp. 299 - 302
• Main Authors: Dobson-Stone, Carol, Velayos-Baeza, 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.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-08-2004; Willey-Liss
• Subjects: Acanthocytes - pathology; Adrenoleukodystrophy - genetics; Adrenoleukodystrophy - metabolism; Biological and medical sciences; Blotting, Western - methods; Cell Line; Chorea - diagnosis; Chorea - genetics; Chorea - pathology; DNA Mutational Analysis - methods; Erythrocyte Membrane - metabolism; Female; Gene Expression Regulation; Humans; Male; Medical sciences; Mutation; Neurology; Proteins - analysis; Proteins - genetics; Vesicular Transport Proteins; Acanthocytosis; Erythrocytic membrane disease; Nervous system diseases; Chorea; Hemopathy; Medical screening; Motor control; Cerebral disorder; Involuntary movement; Hemolytic anemia; Central nervous system disease; Diagnosis; Neurological disorder; Extrapyramidal syndrome
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.20200

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