VPS13A Disease (Chorea‐Acanthocytosis) in Puerto Rico; New Genetic and Clinical Observations

BACKGROUND: VPS13A disease is a very rare neurodegenerative disorder caused by mutations in the VPS13A gene. Its prevalence appears to be relatively high in Puerto Ricans, although limited genetic information has been available. OBJECTIVES: To describe the genetics of VPS13A disease (chorea-acanthocytosis) in Puerto Rico. METHODS: Data were obtained from Puerto Rican patients with genetically confirmed VPS13A disease. RESULTS: Eighteen cases were identified, all carrying at least one of four mutations, c.1400_1401del, c.3556_3557dup, c.3889C>T, and c.2825-253_2905-374del (exon_27-deletion); six additional single variants were detected. Seizures were the presenting symptom in 53% of patients. CONCLUSION: The presence of these probable founder mutations could explain the apparently increased prevalence in Puerto Rico; half of the described variants are newly described mutations and half have been previously reported. Enhanced clinical awareness of the spectrum of presenting symptoms and diagnostic clues, and improved access to genetic testing are essential for timely diagnosis in this population.