Neuroacanthocytosis: phenotypes

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Neuroacanthocytosis: phenotypes. Pantethonate kinase associated neurodegeneration (PKAN). Fully referenced neurology checklist.

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.

Related checklists

Loading...