|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a dinucleotide polymorphism in the first intron of the proteolipid protein (PLP) gene with a heterozygosity frequency of 0.69 useful for molecular analysis of families with X-linked neurologic disorders characterized by dysmyelination of the central nervous system, Pelizaeus-Merzbacher Disease (PMD) and X-linked Spastic Paraplegia (SPG2).
|
7635479 |
1995 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
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 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A boy with spastic paraplegia type 2 (SPG2) due to a novel splice site mutation of PLP1 presented with progressive spasticity of lower limbs, which was first observed during late infancy, when he gained the ability to walk with support.
|
24685771 |
2015 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
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 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defects of the PLP1 gene cause Pelizaeus-Merzbacher disease (PMD) or X-linked spastic paraplegia type 2 (SPG2).
|
19376225 |
2009 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The disease spectrum for PMD and SPG2 is extraordinarily broad and can be best understood by accounting not only for the wide range of mutations that can occur but also for the effects of PLP1 mutations on both cell autonomous and non-cell autonomous processes in myelinating cells.
|
17115121 |
2007 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
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 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
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 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
We find that recombination of Plp1 in excitatory projection neurons does not cause neuropathology, whereas oligodendroglial targeting of Plp1 is sufficient to cause the entire neurodegenerative spectrum of SPG2 including axonopathy and secondary neuroinflammation.
|
28836307 |
2017 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
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 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The complicated form is heterogeneous, caused by mutations of the L1CAM gene at Xq28 (SPG1) or the PLP gene at Xq22 (SPG2) that is allelic to Pelizaeus-Merzbacher disease (PMD).
|
8780101 |
1996 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both PMD and SPG2 are caused by mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major component of CNS myelin proteins.
|
15627202 |
2005 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
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 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gly197Arg is the first novel mutation located within exon 4 of the PLP gene and associated with mild PMD/SPG2 in a Japanese patient.
|
18783902 |
2009 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
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 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
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 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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).
|
22101368 |
2011 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
|
16287154 |
2006 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
|
7531827 |
1995 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
|
12601703 |
2003 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
|
9056547 |
1997 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
Analyses of proteolipid protein mutants show levels of proteolipid protein regulate oligodendrocyte number and cell death in vitro and in vivo.
|
15662843 |
2004 |
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
1.000 |
Biomarker
|
disease |
MGD |
We find that recombination of Plp1 in excitatory projection neurons does not cause neuropathology, whereas oligodendroglial targeting of Plp1 is sufficient to cause the entire neurodegenerative spectrum of SPG2 including axonopathy and secondary neuroinflammation.
|
28836307 |
2017 |