The respective disease-causative genes are as follows: CSTB , PRICKLE1 , MELF , NHLRC1 , KCTD7 , SCARB2 , PRICKLE2 , GOSR2 , KCNC1 , CERS1 , LMNB2
, and PRDM8 .,,,,,,,,,,,, However, there are other neurogenetic diseases mainly characterized by myoclonus, epileptic seizures, and ataxia, such as myoclonus epilepsy and ragged red fibers, neuronal ceroid lipofuscinoses, sialidosis, dentatorubral-pallidoluysian atrophy (DRPLA), and neuronopathic Gaucher disease, while a literature also regarded these diseases as PMEs. In clinic, it is difficult to make an exact diagnosis among the various forms of PMEs due to homogeneous phenotypes.
All patients with CGL and FPLD underwent molecular genetic studies of the genes AGPAT2, BSCL2, CAV1, PTRF, LMNA, LMNB2
, PPARG, PLIN1, AKT2, and CIDEC that confirmed mutations in AGPAT2, BSCL2, PTRF, LMNA, PPARG loci in most patients.