McLeod Syndrome

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

McLeod syndrome is an X-linked recessive neuroacanthocytosis syndrome, due to mutations of the gene encoding for the McLeod protein XK. Symptoms include chorea and other movement disorders, and several other peripheral and central neurological abnormalities. Psychiatric and cognitive impairment is typical, as are cardiomyopathy and hepatosplenomegaly. Elevated creatine kinase and liver enzyme abnormalities suggest the diagnosis.

Original languageEnglish
Title of host publicationEncyclopedia of Movement Disorders, Three-Volume Set
PublisherElsevier
PagesV2-162-V2-164
ISBN (Electronic)9780123741059
DOIs
StatePublished - 1 Jan 2010

Keywords

  • Acanthocytosis
  • Chorea
  • Erythrocyte
  • McLeod syndrome

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