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Published on: August 15, 2019
Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá,
María Camila Cortés-Rojas1, Ana María Zarante-Bahamón2, Jorge Luis Ramón-Gómez3
1Child Neurology Resident, Hospital Militar Central, Bogotá, Colombia.
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.
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