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

ABSTRACT: 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.DNA analysis.Molecular biology research laboratories.First- and second-degree relatives of the original Critchley et al proband from Kentucky.Mutations in the VPS13A gene.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.These findings strongly support the diagnosis of chorea-acanthocytosis as the disorder described in the original report.

SUBMITTER: Velayos-Baeza A 

PROVIDER: S-EPMC4615612 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature