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.
Authors
- Sylvette Ayala‐Peña
- Mitesh Lotia
- Ruth Helen Walker (ORCID: https://orcid.org/0000-0002-8366-072X)
- David K. Simon (ORCID: https://orcid.org/0000-0003-4793-0574)
- Zachary B. Jordan
- Laura S. Surillo Dahdah
- Kurt W. Farrell (ORCID: https://orcid.org/0000-0001-6955-7278)
- Priyanka Moondra (ORCID: https://orcid.org/0000-0002-9888-6465)
- Alayne P. Meyer (ORCID: https://orcid.org/0000-0003-3072-0212)
- Shahrukh Khalique
- Antonio Velayos‐Baeza (ORCID: https://orcid.org/0000-0002-7717-4477)
- Matthew J. Barrett (ORCID: https://orcid.org/0000-0003-4480-0221)
- Alessandro Di Rocco (ORCID: https://orcid.org/0000-0002-5508-5043)
- Kevin M. Flanigan (ORCID: https://orcid.org/0000-0001-6440-3376)
- Klaudia Flóra Laborc
- Carlos A. Toro (ORCID: https://orcid.org/0000-0002-7355-7534)
- Alexey Kozlenkov (ORCID: https://orcid.org/0000-0002-2569-0437)
- Matthew Carrington Swan (ORCID: https://orcid.org/0000-0003-0516-4680)
- Sara Elizabeth Berman
- Olivia Albers
- Aaron Lasker
- Carmen Serrano (ORCID: https://orcid.org/0000-0003-2808-1634)
- Eduardo Perez‐Luciano (ORCID: https://orcid.org/0000-0001-9087-8375)
- Cristal Alicea‐Malave (ORCID: https://orcid.org/0009-0008-1595-5578)
Institutions
- Northwell Health (US)
- Nationwide Children's Hospital (US)
- Beth Israel Deaconess Medical Center (US)
- Harvard University (US)
- Ponce Health Sciences University (PR)
- Virginia Commonwealth University (US)
- University of Puerto Rico System (PR)
- Adventist University of Health Sciences (US)
- University of Oxford (GB)
- James J. Peters VA Medical Center (US)
- Abigail Wexner Research Institute (US)
- The Ohio State University (US)
- Virginia Commonwealth University Medical Center (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2026-10-16
- DOI
- https://doi.org/10.1002/mdc3.70866
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00