McLeod syndrome: Five new pedigrees with novel mutations

Parkinsonism Relat Disord. 2019 Jul;64:293-299. doi: 10.1016/j.parkreldis.2019.04.022. Epub 2019 May 2.

Abstract

Objective: To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical clinical features noted with these new mutations.

Methods: This is a multi-center retrospective review of five MLS cases with novel gene mutations. Genotypic and phenotypic information has been obtained from each center.

Results: Five novel mutations are reported in this Case series. New clinical findings include prolonged asymptomatic elevated creatine kinase (CK) levels, vocal tics, presence of obstructive sleep apnea (OSA), and one patient of Vietnamese ethnicity.

Conclusions: We expand on the clinical and genetic spectrum of MLS demonstrating the clinical variability of MLS.

Keywords: McLeod syndrome; Neuroacanthocytosis; Obstructive sleep apnea; hyperCKemia.

Publication types

  • Case Reports
  • Multicenter Study

MeSH terms

  • Adult
  • Amino Acid Transport Systems, Neutral / genetics*
  • Comorbidity
  • Creatine Kinase / blood
  • Europe
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Neuroacanthocytosis / blood
  • Neuroacanthocytosis / epidemiology
  • Neuroacanthocytosis / genetics*
  • Neuroacanthocytosis / physiopathology*
  • Pedigree
  • Retrospective Studies
  • Sleep Apnea, Obstructive / epidemiology
  • Vietnam

Substances

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

Supplementary concepts

  • Neuroacanthocytosis, Mcleod Type