Background: Pelizaeus–Merzbacher disease (PMD) is an X-linked recessive dysmyelinating
disorder of the CNS. Duplications or point mutations in exons of the proteolipid protein (PLP) …

We report an autopsy case of rare adult-onset spastic paraplegia type 2 (SPG2) with a novel
missense mutation in exon 7 of the proteolipid protein 1 gene (PLP1). The patient was a 67 …

Proteolipid protein (PLP) is a major component of myelin in the central nervous system
where it constitutes approximately 50% of the total myelin protein by mass. This alone …

Jimpy (Plp jp) is an X-linked recessive mutation in mice that causes CNS dysmyelination
and early death in affected males. It results from a point mutation in the acceptor splice site …

The myelin proteolipid protein (Plp) gene encodes the most abundant protein found in
mature CNS myelin. Expression of the gene is regulated spatiotemporally, with maximal …

Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder due to mutations in
the proteolipid protein (PLP) gene. PLP gene mutations are responsible for a broad …

Mutations affecting proteolipid protein 1 (PLP1), the major protein in central nervous system
myelin, cause the X-linked leukodystrophy Pelizaeus–Merzbacher disease (PMD). We …

The dosage of the myelin gene and mutant forms of the protein can affect the CNS and PNS.
Pelizaeus–Merzbacher disease (PMD) is a myelin disorder of the CNS that arises from both …

Mutations of the myelin proteolipid protein gene (Plp) are associated with excessive
programmed cell death (PCD) of oligodendrocytes. We show for the first time that PLP is a …

PLP1 disorders of central nervous system myelin formation include a range of phenotypes
from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically …