| Title |
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
|
|---|---|
| Published in |
neurogenetics, December 2004
|
| DOI | 10.1007/s10048-004-0207-y |
| Pubmed ID | |
| Authors |
Ken Inoue |
| Abstract |
Pelizaeus-Merzbacher disease (PMD) and its allelic disorder, spastic paraplegia type 2 (SPG2), are among the best-characterized dysmyelinating leukodystrophies of the central nervous system (CNS). Both PMD and SPG2 are caused by mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major component of CNS myelin proteins. Distinct types of mutations, including point mutations and genomic duplications and deletions, have been identified as causes of PMD/SPG2 that act through different molecular mechanisms. Studies of various PLP1 mutants in humans and animal models have shed light on the genomic, molecular, and cellular pathogeneses of PMD/SPG2. Recent discoveries include complex mutational mechanisms and associated disease phenotypes, novel cellular pathways that lead to the degeneration of oligodendrocytes, and genomic architectural features that result in unique chromosomal rearrangements. Here, I review the previous and current knowledge of the molecular pathogenesis of PMD/SPG2 and delineate future directions for PMD/SPG2 studies. |
Mendeley readers
The data shown below were compiled from readership statistics for 108 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 2% |
| Netherlands | 1 | <1% |
| Germany | 1 | <1% |
| Italy | 1 | <1% |
| Norway | 1 | <1% |
| Unknown | 102 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 19 | 18% |
| Researcher | 19 | 18% |
| Student > Master | 12 | 11% |
| Student > Bachelor | 10 | 9% |
| Professor | 8 | 7% |
| Other | 24 | 22% |
| Unknown | 16 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 33 | 31% |
| Agricultural and Biological Sciences | 21 | 19% |
| Biochemistry, Genetics and Molecular Biology | 18 | 17% |
| Neuroscience | 13 | 12% |
| Computer Science | 3 | 3% |
| Other | 7 | 6% |
| Unknown | 13 | 12% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 August 2019.
All research outputs
#7,453,827
of 22,787,797 outputs
Outputs from neurogenetics
#116
of 376 outputs
Outputs of similar age
#35,879
of 139,311 outputs
Outputs of similar age from neurogenetics
#2
of 3 outputs
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