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A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32

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Spinocerebellar ataxia type 32 (SCAR32) is a rare autosomal neurodegenerative disorder caused by mutations in the peroxiredoxin 3 (PRDX3) gene, which encodes a mitochondria-specific antioxidant enzyme critical for maintaining cellular redox homeostasis. Here, ... ...