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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.

Original publication

DOI

10.1001/archneurol.2011.239

Type

Journal article

Journal

Arch Neurol

Publication Date

10/2011

Volume

68

Pages

1330 - 1333

Keywords

DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Genotype, Humans, Kentucky, Male, Mutation, Neuroacanthocytosis, Vesicular Transport Proteins