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  • Molecular assay reagents intended to identify mutations in the proteolipid protein 1 (PLP1) gene, located at chromosome Xq22, which encodes for 2 protein isoforms: the proteolipid protein 1 and DM20. Proteolipid protein 1 and DM20 are the main proteins found in myelin of the central nervous system. Mutations at this locus have been identified in male patients with a PLP1 gene-related disorder of the central nervous system (CNS) myelination, resulting in a spectrum of diseases from the severe connatal Pelizaeus-Merzbacher disease (PMD) to the milder uncomplicated spastic paraplegia 2 (SPG2); intermediate severity disorders are classic PMD, PLP1 null syndrome, and complicated SPG2.
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