Abstract
Chromosome Xq22.2 contains the entire proteolipid protein 1 gene (PLP1), and a genomic duplication in that chromosome is responsible for Pelizaeus-Merzbacher disease (PMD). Duplication can be detected using several molecular diagnostic methods such as comparative multiplex PCR, fluorescent in situ hybridization (FISH), restriction site polymorphism (RSP) analysis, and multiplex ligation-dependant probe amplification (MLPA). The characteristics of these methods should be taken into account when using them. There is currently no treatment for PMD, so a cure is urgently need. Advances in research on stem cell therapies, and especially induced pluripotent stem cell therapy, offer great promise for development of a treatment for PMD.