Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome

Mov Disord. 2007 Jan 15;22(2):244-8. doi: 10.1002/mds.21224.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Age Factors
  • Amino Acid Transport Systems, Neutral / genetics*
  • Atrial Fibrillation / complications
  • Atrial Fibrillation / pathology
  • Atrial Fibrillation / physiopathology
  • Brain / pathology
  • Central Nervous System Diseases / complications
  • Central Nervous System Diseases / genetics
  • Central Nervous System Diseases / pathology
  • Chorea / genetics*
  • Chorea / pathology
  • Chromosomes, Human, X / genetics
  • Genetic Variation / genetics
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Myocardium / pathology
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / pathology
  • Phenotype*
  • Siblings*
  • Syndrome

Substances

  • Amino Acid Transport Systems, Neutral
  • XK protein, human