A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary
Benedetta Perrone, Viviana Mosca, Martina Pecoraro, Paola Ruffo, Elda Del Giudice, Alberta Leon, Martina Maino, Vincenzo La Bella, Rossella Spataro, Francesca Luisa Conforti, Efthimios Dardiotis, Kiminobu Sugaya, Vasileios Siokas, Ioannis Liampas · 2025
Read A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary by Benedetta Perrone, Viviana Mosca, Martina Pecoraro, Paola Ruffo, Elda Del Giudice, Alberta Leon, Martina Maino, Vincenzo La Bella, Rossella Spataro, Francesca Luisa Conforti, Efthimios Dardiotis, Kiminobu Sugaya, Vasileios Siokas, Ioannis Liampas (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12692054.txt.
Description
VPS13A disease is a rare, autosomal-recessive, neurodegenerative disorder characterized by involuntary movements, orofacial dystonia, seizures, psychiatric symptoms, and the presence of spiky, deformed red blood cells (acanthocytes). The disease is caused by mutations in the VPS13A gene, which encodes the VPS13A protein (previously known as chorein).
Catalog record
| CREATOR | Benedetta Perrone, Viviana Mosca, Martina Pecoraro, Paola Ruffo, Elda Del Giudice, Alberta Leon, Martina Maino, Vincenzo La Bella, Rossella Spataro, Francesca Luisa Conforti, Efthimios Dardiotis, Kiminobu Sugaya, Vasileios Siokas, Ioannis Liampas |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 23 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |