Abstract

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked hereditary cerebral leukodystrophy caused by proteolipid protein 1 (PLP1) gene mutations. PLP gene encodes a major protein in CNS myelin. Duplication of the gene is the most frequent cause of PMD. The underlying genetic pathogenesis is distinct for each of the different abnormalities,and each class of PLP1 mutations is associated with a definite phenotypes. This article reviews the genetics of PMD and summarises the current knowledge of causative molecular and cellular mechanisms. Key words: Pelizaeus-Merzbacher disease; Proteolipid protein 1; Dysmyelinating disorder

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.