McLeod syndrome

Evidence-based neurology checklist on mcleod syndrome: Genetics This is caused by mutations in the XK gene The transmission is X-linked recessive The onset age is usually in the 40s: the range is the 3 to the 7 decades Common neurological features Rare neurological features Psychiatric features…

Genetics

  • This is caused by mutations in the XK gene
  • The transmission is X-linked recessive
  • The onset age is usually in the 40s: the range is the 3 to the 7 decades

Common neurological features

Rare neurological features

Psychiatric features

Cardiac features

Blood tests

Causes of death

References

  1. Jung HH, Danek A, Walker RH. Neuroacanthocytosis syndromes. Orphanet J Rare Dis 2011; 6:68.
  2. Hewer E, Danek A, Schoser BG, et al. McLeod myopathy revisited: more neurogenic and less benign. Brain 2007; 130:3285-3296.
  3. Roulis E, Hyland C, Flower R, Gassner C, Jung HH, Frey BM. Molecular basis and clinical overview of mcleod syndrome compared with other neuroacanthocytosis syndromes: a review. JAMA Neurol 2018; doi: 10.1001/jamaneurol.2018.2166 (Epub ahead of print).
  4. Jung HH, Danek A, Frey BM. McLeod syndrome: a neurohaematological disorder. Vox Sang 2007; 93:112-121. 
  5. Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001; 50:755-764.
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