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This study aims to characterize the unique presentation of motor-predominant axonal neuropathy associated with biallelic SCO2 variants.

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

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This study aims to characterize the unique presentation of motor-predominant axonal neuropathy associated with biallelic SCO2 variants.
Clinical and genetic studies were performed in a 15-year-old female with axonal neuropathy.
Functional studies, including Western blot analysis and cytochrome c oxidation assay, were conducted in patient-derived fibroblasts.
Structural modeling was performed using ChimeraX to predict protein stability effects of variants.
The patient exhibited a motor-predominant axonal neuropathy consistent with Charcot-Marie-Tooth disease.
Genetic testing revealed compound heterozygous SCO2 variants: p.Arg120Trp and p.Asp252ValfsTer24, both of uncertain significance.
Functional studies showed complete absence of SCO2 protein and reduced mitochondrial complex IV activity, indicating a loss-of-function effect.

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Randomized trial characterizes motor-predominant axonal neuropathy in a 15-year-old female, suggesting a unique presentation of SCO2-related disease.

Züchner et al. (2026) studied this question.

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Randomized trial characterizes motor-predominant axonal neuropathy in a 15-year-old female, suggesting a unique presentation of SCO2-related disease.