We must always remember that research results and research conclusions are not synonymous. Not all the data/claims in the research articles listed below are endorsed/supported by The PMD Foundation. This information is provided only to give access to research regarding PMD and leukodystrophies.
Go to the LINKS subtopic under SUPPORT for links to other organizations that provide additional resource material. If you’d like more information about the research that applies to PMD, myelin, and other pertinent subjects, check out the scientific articles and abstracts below:
– Myelinating oligodendrocyte progenitor cells (OPCs) were generated from human iPSCs
– hiPSC OPCs myelinated the brains of shiverer mice and increased their survival
– Myelination by hiPSC OPCs was faster than that of fetal-tissue-derived OPCs
– hiPSC OPCs produced both astrocytes and oligodendrocytes and were not tumorigenic
Pelizaeus–Merzbacher-like disease (PMLD) indicates a disorder virtually identical to Pelizaeus–Merzbacher disease (PMD) (MIM# 312080) but without a mutation in the PLP1 gene.1 Both disorders are characterised by nystagmus, developmental delay, progressive spasticity, ataxia and hypomyelination on brain magnetic resonance imaging (MRI).
Pelizaeus–Merzbacher disease is an early onset dysmyelinating
leukodystrophy. About 80% of PMD cases have been associated with
duplications and mutations of the proteolipid protein 1 (PLP1 ) gene.
Pelizaeus–Merzbacher-like disease is a genetically heterogeneous
autosomal recessive disease and rarely caused by mutations in gap
junction protein α12 (GJA12 /GJC2 ) gene.
Neural stem cells transplanted into the brains of people with Pelizaeus-Merzbacher disease (PMD) can differentiate and begin producing the myelin sheaths that these patients lack, according to results of a Phase I clinical trial published today (October 10) in Science Translational Medicine.
Faulty insulation around household wiring is an electric shock and fire hazard; likewise, defects in the insulation around nerve fibers—the myelin sheath—can have destructive effects. Because of myelin’s crucial roles in promoting the rapid transmission of nerve impulses and in axon integrity, mutations that affect myelin formation in the central nervous system cause severe neurological decline.
CLEVELAND – Scientists at Case Western Reserve University School of Medicine found a way to rapidly produce pure populations of cells that grow into the protective myelin coating on nerves in mice. Their process opens a door to research and potential treatments for multiple sclerosis, cerebral palsy and other demyelinating diseases afflicting millions of people worldwide.
Limited information is available on the use of botulinum toxin type A injections for children with hereditary spastic paraplegia. This report includes 12 children with hereditary spastic paraplegia (mean age 4.8 ± 2.5 years) who underwent 1 to 6 sessions of botulinum toxin A injections to the hamstrings, adductors and gastrocnemius muscles.
Pelizaeus-Merzbacher disease (PMD; MIM#312080) is a rare X-linked recessive neurodegenerative disorder. The main cause of PMD is alterations in the proteolipid protein 1 gene (PLP1) on chromosome Xq22.2. Duplications and point mutations of PLP1 have been found in 70% and 10-25% of all patients with PMD, respectively, with a wide clinical spectrum.
Pelizaeus-Merzbacher disease is a rare X-linked disorder caused by mutations of the proteolipid protein 1 gene that encodes a structural component of myelin. It is characterized by progressive psychomotor delay, nystagmus, spastic quadriplegia, and cerebellar ataxia.
We identified seven genomic duplications and one missense mutation (p. P173S) of the PLP1 gene in eight Chinese patients with PMD. This is the report about PLP1 mutations in PMD patients from the mainland of China.
We describe genomic structures of 59 X-chromosome segmental duplications that include the proteolipid protein 1 gene (PLP1) in patients with Pelizaeus-Merzbacher disease. We provide the first report of 13 junction sequences, which gives insight into underlying mechanisms.
We describe five boys from different families with an atypically severe form of Pelizaeus-Merzbacher disease (PMD) who have three, and in one case, five copies of the proteolipid protein (PLP1) gene. This is the first report of more than two copies of PLP1 in PMD patients and clearly demonstrates that severe clinical symptoms are associated with increased PLP1 gene dosage.
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Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the pure form of spastic paraplegia type 2 to a severely disabling form of Pelizaeus-Merzbacher disease featuring hypotonia, respiratory distress, stridor, nystagmus, and profound myelin loss.
In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is infrequent. Genomic mechanisms for these submicroscopic chromosomal rearrangements remain unknown. We identified three families with PLP1 deletions (including one family described elsewhere) that arose by three distinct processes.
No one knows what causes multiple sclerosis, which occurs when the body’s immune system attacks the protective myelin sheath surrounding nerve fibers in the brain and spine. Symptoms of multiple sclerosis include muscle weakness and stiffness, balance and coordination problems and numbness and vision disturbances.
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If scientists can harness the repair skills of the molecule, known as tumor necrosis factor-alpha (TNF-a), they may be able to develop new treatments for MS and other diseases that damage the central nervous system, according to the report in the advance online edition of the journal Nature Neuroscience.
The proteolipid protein gene (PLP) is normally present at chromosome Xq22. Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher disease (PMD). Here we describe two new families in which males affected with PMD were found to have a copy of PLP on the short arm of the X chromosome, in addition to a normal copy on Xq22. In the first family, the extra copy was first detected by the presence of heterozygosity of the AhaII dimorphism within the PLP gene.