More recently, Takahashi et al reported a novel compound heterozygous PMPCA variants, c.667C > T p. (Arg223Cys) and c.853del p. (Asp285llefs*16), in a Japanese girl of 15 years old, who presented with a severe phenotype of a progressive developmental delay, cerebellar ataxia, and extrapyramidal symptoms.14 The gene discussed is PMPCA; the disease is cerebellar ataxia.