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

News aggregator

17 Oct 2026 0 comments

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.