Compound heterozygous mutations in the PNKP gene impact DNA repair, resulting in neurodevelopmental defects and various clinical presentations, such as MCSZ,[2] ataxia with oculomotor apraxia type 4,[32–34] and Charcot–Marie–Tooth disease type 2B2.[35] Therefore, a comprehensive assessment of pathogenic factors should consider the patient’s clinical symptoms, disease-causing genes, and relevant biochemical markers. This evidence concerns the gene PNKP and cerebellar ataxia.