title: Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
abstract: 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.
  
  
  METHODS
  DNA analysis.
  
  
  METHODS
  Molecular biology research laboratories.
  
  
  METHODS
  First- and second-degree relatives of the original Critchley et al proband from Kentucky.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  These findings strongly support the diagnosis of chorea-acanthocytosis as the disorder described in the original report.
authors: The Wellcome Trust Centre for Human Genetics, Oxford, England.
authors: Antonio
authors: A
authors: Velayos-Baeza
authors: Elke
authors: E
authors: Holinski-Feder
authors: Birgit
authors: B
authors: Neitzel
authors: Benedikt
authors: B
authors: Bader
authors: Edmund M R
authors: EM
authors: Critchley
authors: Anthony P
authors: AP
authors: Monaco
authors: Adrian
authors: A
authors: Danek
authors: Ruth H
authors: RH
authors: Walker
mesh_terms: D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007629:Kentucky; D008297:Male; D009154:Mutation / Q000235:genetics*; D054546:Neuroacanthocytosis / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins