Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of severe developmental delay, intellectual disability, and behavioral abnormalities.
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31448840 |
2020 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
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 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2.
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28836307 |
2017 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alterations in the myelin proteolipid protein gene ( PLP1) may result in rare X-linked disorders in humans such as Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
|
28735559 |
2017 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1.
|
28320130 |
2017 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene.
|
25043250 |
2015 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation.
|
24685771 |
2015 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.
|
24103481 |
2014 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Proteolipid protein 1 (PLP1) gene-related disorders due to mutations in the PLP1 include a wide spectrum of X-linked disorders ranging from severe connatal Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2).
|
23711321 |
2014 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are rare X-linked allelic disorders caused by mutations in the PLP1 gene, encoding the main component of myelin, proteolipid protein 1 (PLP1).
|
23245814 |
2013 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLP1 partial deletion is a rare cause of spastic paraplegia type 2 and exhibits X-linked dominant inheritance with variable expressivity.
|
24095575 |
2013 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Various types of mutations of the X-linked proteolipid protein 1 gene (PLP1) that include copy number changes, point mutations, and insertions or deletions of a few bases lead to a clinical spectrum from the most severe connatal PMD, to the least severe spastic paraplegia 2 (SPG2).
|
22422208 |
2012 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene.
|
22101368 |
2011 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic Pelizaeus-Merzbacher Disease (PMD).
|
19955111 |
2010 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Defects of the PLP1 gene cause Pelizaeus-Merzbacher disease (PMD) or X-linked spastic paraplegia type 2 (SPG2).
|
19376225 |
2009 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLP gene mutations are responsible for a broad spectrum of disease, from the most severe form, connatal PMD, to a less severe form, spastic paraplegia 2 (SPG2).
|
18783902 |
2009 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PLP1 gene can also give rise to spastic paraplegia type 2 (SPG2), an allelic form of the disease.
|
18485258 |
2008 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders that principally affect males and are caused by mutations in the proteolipid protein 1 gene.
|
16778599 |
2006 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The proteolipoprotein (PLP1) gene has been implicated in two X-linked forms, Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2, and the gap junction protein alpha12 (GJA12) gene in a recessive form of PMD.
|
16441258 |
2006 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
|
16374829 |
2006 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The proteolipid protein 1 (PLP1) gene is known to be mutated in the X-linked disorders of myelin formation Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2.
|
16416265 |
2006 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
BEFREE |
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
|
15627202 |
2005 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, spastic paraplegia 2 (SPG2) is allelic to PMD and typically caused by missense mutations in the second extracellular domain of PLP1 or in the PLP1-specific region that is spliced out during formation of the DM20 isoform.
|
15450775 |
2004 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) and a complicated form of familial spastic paraparesis (spastic paraplegia 2 [SPG2]) are X-linked development disorders of myelin formation caused by a mutation in the proteolipid protein (PLP) gene.Spastic paraplegia 2 is allelic to PMD.
|
12580714 |
2003 |
Hereditary X-Linked Recessive Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we review the dosage effects and mutations of the proteolipid protein (PLP) gene that causes Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia Type 2 (SPG2) disorders of CNS myelination.
|
11535114 |
2001 |