Two siblings were previously reported with an overlap of SPG56- and CLCN2-associated leucoencephalopathy and ataxia, carrying biallelic pathogenic CYP2U1 variants and also biallelic CLCN2 likely pathogenic variants, with azoospermia and MRI compatible with CLCN2, suggesting a true overlap. The gene discussed is CYP2U1; the disease is cerebellar ataxia.