Research Articles

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:

Neurochemistry of Hypomyelination Investigated with MR Spectroscopy

Neurochemistry of Hypomyelination Investigated with MR Spectroscopy

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Modeling The Natural History Of Pelizaeus-Merzbacher Disease

Modeling The Natural History Of Pelizaeus-Merzbacher Disease

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Unusual Presentation Of Pelizaeus-Merzbacher Disease Female Patient With Deletion.........

Unusual Presentation Of Pelizaeus-Merzbacher Disease Female Patient With Deletion Of The Proteolipid Protein 1 Gene

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A Rare Case Of Palizaeus Merzbacher Disease In A Female Patient Diagnosed Radiologically

A Rare Case Of Palizaeus Merzbacher Disease In A Female Patient Diagnosed Radiologically

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Clinical Pictures In Pelizaeus-Merzbacher Disease A Report Of A Case

Clinical Pictures In Pelizaeus-Merzbacher Disease A Report Of A Case

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Curcumin Therapy In A Plp1 Transgenic Mouse Model Of Pelizaeus-Merzbacher Disease

Curcumin Therapy In A Plp1 Transgenic Mouse Model Of Pelizaeus-Merzbacher Disease

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Pelizaeus Merzbacher Disease Dysmyelination Versus Demyelination

Pelizaeus Merzbacher Disease Dysmyelination Versus Demyelination

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Human iPSC-Derived Oligodendrocyte Progenitor Cells Can Myelinate . . . . .

Human iPSC-Derived Oligodendrocyte Progenitor Cells Can Myelinate and
Rescue a Mouse Model of Congenital Hypomyelination

– 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

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Expanded spectrum of Pelizaeus–Merzbacher-like disease:

Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

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).

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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease

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.

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Stem Cells Myelinate Human Brain

Stem Cells Myelinate Human Brain

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.

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Neural Stem Cell Engraftment and Myelination in the Human Brain

Neural Stem Cell Engraftment and Myelination in the Human Brain

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.

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Mice Stem Cells Guided into Myelinating Cells by the Trillions

Mice Stem Cells Guided into Myelinating Cells by the Trillions

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.

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Botulinum Toxin Injections for Pediatric Patients With Hereditary Spastic Paraparesis

Botulinum Toxin Injections for Pediatric Patients With Hereditary Spastic Paraparesis

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.

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Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease . . . . .

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

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.

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Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease

Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease

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.

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Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.

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.

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Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a . . . . .

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

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.

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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

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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Scientists Discover the Molecular Switch for Nerve Cells’ Insulating Jelly Rolls

Scientists Discover the Molecular Switch for Nerve Cells’ Insulating Jelly Rolls

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Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type 2: . . . . .

Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type 2: Two Faces of Myelin Loss From Mutations in the Same Gene

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.

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Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and . . . . .

Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

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.

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Cholesterol Drug Counters MS Symptoms in Mice

Cholesterol Drug Counters MS Symptoms in Mice

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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Myelin-Growing Cells Injected into Woman with MS

Myelin-Growing Cells Injected into Woman with MS

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Protein Gives Clue to MS, Other Diseases

Protein Gives Clue to MS, Other Diseases

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.

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Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise . . . . .

Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

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.

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