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.
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.
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Authors: Alessandro Vaisfeld; Giorgia Bruno; Martina Petracca; Anna Rita Bentivoglio; Serenella Servidei; Maria Gabriella Vita; Francesco Bove; Giulia Straccia; Clemente Dato; Giuseppe Di Iorio; Simone Sampaolo; Silvio Peluso; Anna De Rosa; Giuseppe De Michele; Melissa Barghigiani; Daniele Galatolo; Alessandra Tessa; Filippo Santorelli; Pietro Chiurazzi; Mariarosa Anna Beatrice Melone Journal: Genes (Basel) Date: 2021-02-26 Impact factor: 4.096