|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Expression of the gene must be strictly regulated, as evidenced by human X-linked leukodystrophies resulting from variations in PLP1 copy number, including elevated dosages as well as deletions.
|
31782102 |
2020 |
|
Leukodystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Diffusion tensor imaging and tractographic parameters can operate as biomarkers to distinguish clinical severity in PLP1-related disorders and could improve our understanding of hypomyelinating leukodystrophies.
|
30261498 |
2018 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA variants of the proteolipid protein 1 gene (PLP1) that shift PLP1/DM20 alternative splicing away from the PLP1 form toward DM20 cause the allelic X-linked leukodystrophies Pelizaeus-Merzbacher disease (PMD), spastic paraplegia 2 (SPG2), and hypomyelination of early myelinating structures (HEMS).
|
30195779 |
2018 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is a severe hypomyelinating leukodystrophy resulting from proteolipid protein 1 gene (PLP1) mutations leading to oligodendrocyte loss.
|
27661457 |
2016 |
|
Leukodystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations that reduce the ratio of PLP1 to DM20, whether mutant or normal protein is formed, result in the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD).
|
24890387 |
2014 |
|
Leukodystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
PLP1 gene analysis in 88 patients with leukodystrophy.
|
23347225 |
2013 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Proteolipid protein 1 gene (PLP1) mutations result in a continuum of neurological findings characterized by X-linked hypomyelinating leukodystrophies of the central nervous system, from mild spastic paraplegia type 2 to severe Pelizaeus-Merzbacher disease.
|
24095575 |
2013 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD; MIM#312080) is a rare X-linked leukodystrophy presenting with motor developmental delay associated with spasticity and nystagmus.
|
22490426 |
2012 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting proteolipid protein 1 (PLP1), the major protein in central nervous system myelin, cause the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD).
|
19562355 |
2009 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on the long arm of the X chromosome in band Xq22.
|
18437021 |
2008 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLP1 gene mutations are associated with a large spectrum of X-linked dysmyelinating disorders ranging from hypomyelinating leukodystrophy, Pelizaeus-Merzbacher disease (PMD), to spastic paraplegia (SPG2) according to the nature of the mutation.
|
18470932 |
2008 |
|
Leukodystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.
|
16416265 |
2006 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22.
|
12230321 |
2002 |
|
Leukodystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is a leukodystrophy associated with mutations in the proteolipid protein (PLP) gene.
|
10401787 |
1999 |