21/10/2026
We are delighted to report that a new study has just been published in Movement Disorders Clinical Practice entitled “VPS13A Disease (Chorea-Acanthocytosis) in Puerto Rico; New Genetic and Clinical Observations”. The study was led by senior author Dr Ruth Walker, board member of Neuroacanthocytosis Advocacy USA, Inc.. Drs Cristal Alicea-Malavé and Antonio Velayos-Baeza, are joint first authors, and were responsible for collecting and analysing the data. Dr Sylvette Ayala-Pena, also a member of the NA Advocacy USA Board contributed to the study, too.
In this study, clinicians and scientists identified 18 people in Puerto Rico or from Puerto Rican families on the US mainland with confirmed VPS13A disease. They found that many of them shared the same four genetic changes, which suggests these may be “founder mutations” (variants that have been passed down through families over generations). This helps explain why VPS13A disease appears to occur more often in Puerto Rican families than expected. VPS13A disease is found worldwide, but there are a very large number of variants which cause the disease, and very often these are not the same, even in particular regions.
The study also showed that seizures were the first symptom for more than half of the patients. This is important because it reminds clinicians that VPS13A disease doesn’t always start with movement symptoms, and that earlier genetic testing can help families get answers sooner. The average delay to diagnosis was almost 9 years.
Overall, the research highlights the need for better clinical awareness and easier access to genetic testing, so people can receive a diagnosis and support earlier in their journey. Because this condition is ultra rare, every piece of research helps families and clinicians understand it better.
We are deeply grateful to all authors for advancing understanding of VPS13A disease and helping families receive earlier, more accurate diagnoses.
🔗 Read the published article: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.70866
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 in...
