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The chorea of McLeod syndrome†
Article first published online: 20 SEP 2001
Copyright © 2001 Movement Disorder Society
Volume 16, Issue 5, pages 882–889, September 2001
How to Cite
Danek, A., Tison, F., Rubio, J., Oechsner, M., Kalckreuth, W. and Monaco, A.P. (2001), The chorea of McLeod syndrome. Mov. Disord., 16: 882–889. doi: 10.1002/mds.1188
- Issue published online: 12 OCT 2001
- Article first published online: 20 SEP 2001
- Manuscript Accepted: 5 MAR 2001
- Manuscript Revised: 27 FEB 2001
- Manuscript Received: 21 SEP 2000
- McLeod syndrome;
- neurogenetic disorder;
Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the XK gene on the X-chromosome. We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face.
In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. Lip-biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome. © 2001 Movement Disorder Society.