Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred

Arch Neurol. 2011 Oct;68(10):1330-3. doi: 10.1001/archneurol.2011.239.


Objective: To determine the molecular nature of the neurological disease in the seminal family reported by Critchley et al in the 1960s, characterized by a hyperkinetic movement disorder and the appearance of acanthocytosis on peripheral blood smear. The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion.

Design: DNA analysis.

Setting: Molecular biology research laboratories.

Participants: First- and second-degree relatives of the original Critchley et al proband from Kentucky.

Main outcome measures: Mutations in the VPS13A gene.

Results: A mutation was identified in the VPS13A gene, responsible for autosomal recessive chorea-acanthocytosis. Haplotype reconstruction suggested that this mutation was homozygous in the proband.

Conclusion: These findings strongly support the diagnosis of chorea-acanthocytosis as the disorder described in the original report.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Family Health*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Kentucky
  • Male
  • Mutation / genetics*
  • Neuroacanthocytosis / genetics*
  • Vesicular Transport Proteins / genetics*


  • VPS13A protein, human
  • Vesicular Transport Proteins