Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 ( SPAX5 ): Report of Two Pediatric Cases from Bogotá, Colombia
Year: 2025
Type: article
Study design: Case Report
Abstract: BACKGROUND: Spastic ataxia type 5 (SPAX5) is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the AFG3L2 gene. It is characterized by spasticity, cerebellar ataxia, dystonia, and myoclonic epilepsy. OBJECTIVES: The objective was to describe the clinical features, with a focus on abnormal movements, and therapeutic outcomes in two Colombian patients with SPAX5. METHODS: Two non-consanguineous patients were evaluated for movement disorders, including spasticity, dystonia, and myoclonus, along with developmental regression and seizures. Treatment responses to antiepileptic drugs and levodopa were analyzed. RESULTS: Both patients presented with lower extremity spasticity, generalized dystonia, myoclonus, and seizures. Their responses to treatment were highly variable. CONCLUSIONS: This study emphasizes the importance of abnormal movements in the clinical presentation of SPAX5 and highlights the variability in treatment outcomes.
DOI: 10.1002/mdc3.70092
Institution: Hospital Militar Central
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4409673210