McLeod syndrome

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

Abstract

McLeod syndrome is a rare X-linked recessive neuroacanthocytosis syndrome, caused by 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. Cardiomyopathy and hepatosplenomegaly are typical. Psychiatric and cognitive impairment may be seen. Elevated creatine kinase and liver enzyme abnormalities suggest the diagnosis.

Original languageEnglish
Title of host publicationThe Curated Reference Collection in Neuroscience and Biobehavioral Psychology
PublisherElsevier Science Ltd.
Pages162-164
Number of pages3
ISBN (Electronic)9780128093245
DOIs
StatePublished - 1 Jan 2016

Keywords

  • Acanthocytosis
  • Cardiomyopathy
  • Chorea
  • Erythrocyte
  • McLeod syndrome
  • Neuroacanthocytosis
  • Neuropathy
  • Seizures
  • XK

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