Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report
This report highlights the genomic heterogeneity of spastic ataxia Charlevoix-Saguenay and emphasizes the importance of investigating the genetic landscape of the disease in diverse populations. Understanding the underlying genetic alterations and their geographic distribution contributes to improved diagnosis, management, and potentially targeted therapies for individuals affected by spastic ataxia Charlevoix-Saguenay worldwide.
Authors
- Víctor Raggio (ORCID: https://orcid.org/0000-0001-5389-5002)
- Andrea Rey
- Lucía Spangenberg (ORCID: https://orcid.org/0000-0001-5124-9250)
- Camila Simoes
- Alejandra Tapié
- Soledad Rodríguez
- Florencia Birriel
- Kateryn Bentancor
Institutions
- Universidad de la República de Uruguay (UY)
- Universidad CLAEH (UY)
- Institut Pasteur de Montevideo (UY)
- Fundación IRAUy (UY)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-08-19
- DOI
- https://doi.org/10.1186/s13256-025-05480-z
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Agencia Nacional de Investigación e Innovación
- H2020 European Research Council