The chorea of McLeod syndrome.

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  • Author(s): Danek A;Danek A; Tison F; Rubio J; Oechsner M; Kalckreuth W; Monaco AP
  • Source:
    Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2001 Sep; Vol. 16 (5), pp. 882-9.
  • Publication Type:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Print ISSN: 0885-3185 (Print) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
    • Publication Information:
      Publication: <2001->: New York, NY : Wiley-Liss
      Original Publication: [New York, N.Y.] : Raven Press, [c1986-
    • Subject Terms:
    • Abstract:
      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.
      (Copyright 2001 Movement Disorder Society.)
    • Accession Number:
      0 (Amino Acid Transport Systems, Neutral)
      0 (Carrier Proteins)
      0 (Kell Blood-Group System)
      0 (Membrane Proteins)
      0 (Proteins)
      0 (VPS13A protein, human)
      0 (Vesicular Transport Proteins)
      0 (XK protein, human)
    • Publication Date:
      Date Created: 20011218 Date Completed: 20020213 Latest Revision: 20191025
    • Publication Date:
      20240829
    • Accession Number:
      10.1002/mds.1188
    • Accession Number:
      11746618