Neuroacanthocytosis: phenotypes

Evidence-based neurology checklist on neuroacanthocytosis: phenotypes: Phenotypes of neuroacanthocytosis Pantethonate kinase associated neurodegeneration (PKAN) Chorea acanthocytosis: VPS13A gene mutation McLeod syndrome: XK gene mutation on X chromosome

Phenotypes of neuroacanthocytosis

  • Pantethonate kinase associated neurodegeneration (PKAN)
  • Chorea acanthocytosis: VPS13A gene mutation
  • McLeod syndrome: XK gene mutation on X chromosome

References

  1. Jung HH, Danek A, Walker RH. Neuroacanthocytosis syndromes. Orphanet J Rare Dis 2011; 6:68.
  2. Walker S, Dad R, Thiruvahindrapuram B, et al. Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. Neurol Genet. 2018; 4:e242.

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