It is worth mentioning the early appearance of cerebellar cortical hyperintensities in seven patients with a non-progressive phenotype associated to variants in ITPR1 (3), SPTBN2 (2), PMPCA, and KIF1A genes, resembling the neuroimaging pattern recognised in neurodegenerative disorders such as PLAN, mitochondrial disorders, late onset GM2 gangliosidosis, and recently in our patient with PRDX3-associated neurodegeneration (PRAN) [17]. Here, PMPCA is linked to GM2 gangliosidosis.