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. This evidence concerns the gene CYP2U1 and Ataxia.