Recently, a novel heterozygous PMPCA variant c.677C>T (p.Arg223Cys) with a deletion of c.853del (p.Asp285Ilefs*16) was reported in a 15-year-old Japanese girl with severe and progressive developmental delay, cerebellar ataxia and extrapyramidal symptoms that seem to represent a new type of SCAR2 [18] (Table 1). Here, PMPCA is linked to aceruloplasminemia.