|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is a leukodystrophy associated with mutations in the proteolipid protein (PLP) gene.
|
10401787 |
1999 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disorder of the central nervous system typically caused by duplications or missense mutations of the proteolipid protein (PLP) gene.
|
10586260 |
1999 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disease caused by coding sequence mutations in the PLP gene, sub-microscopic duplications of variable sizes including the PLP gene or very rarely deletions of the PLP gene.
|
10878666 |
2000 |
|
Pelizaeus-Merzbacher Disease
|
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 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disease caused by mutations, deletions, or duplications of the proteolipid protein (PLP) gene.
|
15753308 |
2005 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
|
7541731 |
1995 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
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 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
A defective disulfide bond in PLP protein could be important in the pathogenesis of PMD.
|
21177054 |
2011 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A duplication of the whole PLP gene is the most common mutation and results usually in the milder classical phenotype, whereas point mutations in PLP gene often result in the rarer and more severe connatal form of PMD.
|
11786921 |
2002 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A large X-linked kindred with Pelizaeus-Merzbacher like disease (Pelizaeus-Merzbacher disease [PMD] lacking a proteolipid protein [PLP] mutation) was studied for linkage to 34 X-chromosome short tandem repeat polymorphism markers.
|
9305348 |
1997 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
|
1707231 |
1991 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Additionally, a single intracerebroventricular injection of MO-PLP into the brains of neonatal mice, carrying a deletion of an intronic splicing enhancer identified in a PMD patient that reduces the Plp1 spliced form, corrected alternative splicing at both RNA and protein levels in the CNS.
|
30195779 |
2018 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although this patient might be heterozygous for a mutation of the extraexonic PLP gene sequences or of other unknown X-linked PLP associated genes, we speculate that this case had a dysmyelinating disease with an autosomal recessive trait characterized by the same phenotype as that of PMD.
|
8733901 |
1996 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As only 10 - 30 % of patients with a Pelizaeus Merzbacher disease (PMD) phenotype carry mutations of the proteolipid protein (PLP) gene, we were interested if the degree and time-dependent progression of abnormal MRI and MRS findings would discriminate patients with mutations of the PLP gene (Pelizaeus Merzbacher disease, PMD) from patients without a defect of the PLP gene (Pelizaeus Merzbacher-like disease, PMLD).
|
12910435 |
2003 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because a homologous myelin protein gene, PMP22, is duplicated in the majority of patients with Charcot-Marie-Tooth 1A, PLP gene overdosage may be a important genetic abnormality in PMD and affect myelin formation.
|
8659540 |
1996 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.
|
1676565 |
1991 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Characterization of a PLP-overexpressing transgenic rat, a model for the connatal form of Pelizaeus-Merzbacher disease.
|
21784154 |
2011 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
|
9747038 |
1998 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
|
9934976 |
1999 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of the PLP gene and PLP mRNAs from the brain of the PMD patient revealed a G to T transition in exon V of the PLP gene, which leads to a glycine to cysteine substitution at residue 220.
|
7683951 |
1993 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Duplications of the proteolipid protein (PLP) gene have been found in a proportion of patients, suggesting that, in addition to coding-region or splice-site mutations, overdosage of the gene can cause PMD.
|
9634530 |
1998 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Findings in our patients support that this form of spastic paraplesia is allelic to Pelizaeus-Merzbacher disease and that the mild clinical phenotype of this disorder may be related to a mutation within exon 3B of the PLP gene.
|
7488049 |
1995 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
|
16207216 |
2005 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In an attempt to identify molecular defects of this genomic region that are responsible for PMD, these results meant that RFLP analysis could be used to improve genetic counseling for the numerous affected families in which a PLP exon mutation could not be demonstrated.
|
7915877 |
1994 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In investigating genotype-phenotype correlations, we screened five Japanese families with PMD for PLP gene mutations and compared their clinical manifestations.
|
9008538 |
1997 |