Phenotypic characterization of a chorea-acanthocytosis cohort in Sweden

Takeaway

  • Three novel mutations in the vacuolar protein sorting 13 homolog A gene (VPS13A) were identified in cases of chorea-acanthocytosis (ChAc).

  • Progressive caudate atrophy was described for the first time in an individual with ChAc.

Why this matters

    Findings from this study add to the genetic and clinical spectrum of ChAc.