Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.

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.