Biallelic Variants in <scp><i>AFG3L2</i></scp> Causing Spastic Ataxia Type 5 (<scp>SPAX5</scp>): Report of Two Pediatric Cases from Bogotá, Colombia
This study emphasizes the importance of abnormal movements in the clinical presentation of SPAX5 and highlights the variability in treatment outcomes.
Authors
- Ana María Zarante Bahamón (ORCID: https://orcid.org/0000-0002-2244-0838)
- María Camila Cortés‐Rojas (ORCID: https://orcid.org/0000-0001-8340-2950)
- Jorge Luis Ramón‐Gómez (ORCID: https://orcid.org/0000-0002-2697-2380)
Institutions
- Alexander von Humboldt Biological Resources Research Institute (CO)
- Hospital Militar Central (CO)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2025-04-22
- DOI
- https://doi.org/10.1002/mdc3.70092
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00