|
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 |
This is the first report of a frameshift mutation in the PLP gene in PMD.
|
7684945 |
1993 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease.
|
1376966 |
1992 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
|
7684886 |
1993 |
|
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 |
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 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in introns of the PLP gene, even at positions that are not 100% conserved at splice sites, are an important cause of PMD.
|
11071483 |
2000 |
|
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 |
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 |
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 |
We conclude that the two cases are a rare type of dysmyelinating disorder with PMD phenotype of adult onset and could be caused by previously unrecognized abnormalities of the PLP gene or other genes.
|
10651021 |
2000 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG2 shows mutations in one of the major myelin proteins, the proteolipid protein (PLP) gene, and is allelic to Pelizaeus-Merzbacher disease.
|
8782167 |
1996 |
|
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 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied cultured skin fibroblasts from 2 brothers with Pelizaeus-Merzbacher disease who exhibited no detectable exonic mutation of the PLP gene.
|
7574457 |
1995 |
|
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 |
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 |
Recent studies have shown that an increased PLP dosage, resulting from total duplication of the PLP gene, invariably causes the classic form of PMD.
|
10588103 |
2000 |
|
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 |
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 |
These results demonstrate that duplications of the PLP gene are the major cause of PMD.
|
9633722 |
1998 |
|
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 |
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 |
Transgenic mice carrying extra copies of the Plp gene provide a valid model of PMD/SPG due to gene duplication.
|
9672418 |
1998 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We focus on the increased dosage of the PLP gene that is the major cause of PMD and results from a submicroscopic duplication of Xq22.
|
11535114 |
2001 |
|
Pelizaeus-Merzbacher Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Plp1 overexpressing mouse model (PLP-tg<sup>66/66</sup> ) develops a phenotype very similar to human PMD, with early and severe motor dysfunction and a dramatic decrease in lifespan.
|
29027761 |
2018 |