Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome

Ruth H. Walker, Hans H. Jung, François Tison, Soohee Lee, Adrian Danek

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


McLeod syndrome is an X-linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease-modifying factors that may explain some of the difficulties with genotype-phenotype correlation in McLeod syndrome.

Original languageEnglish
Pages (from-to)244-247
Number of pages4
JournalMovement Disorders
Issue number2
StatePublished - 15 Jan 2007


  • Chorea
  • McLeod syndrome
  • Neuroacanthocytosis


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