ARSA and neuropathy: The p.T410I variant in the MLD gene ARSA has been reported and to cause a mild, very late-onset neuropathy phenotype.22 We here report the first subject with this variant in a homozygous state, showing neither neuropathy nor MLD, and in particular exhibiting normal ARSA activity, thus casting doubt on the pathogenicity of this variant and thus of the reported ARSA phenotype.