Recently, rare variants in MME were detected in both familial and non-familial cases of chronic idiopathic axonal polyneuropathy (7, 28), and repeat expansions of RFC1 in patients with a complex phenotype (sensory neuropathy, cerebellar ataxia and vestibular disturbance) and also in patients with idiopathic sensory neuropathy although with time this may evolve to the more complex phenotype (30, 31). Here, RFC1 is linked to aceruloplasminemia.