HOME PRODUCTS SERVICES COMPANY CONTACT FAQ

Pelizaeus-Merzbacher Disease

Subscribe to New Research on Pelizaeus-Merzbacher Disease

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)

Also Known As:

Adult Pelizaeus-Merzbacher Disease; Atypical Pelizaeus-Merzbacher Disease; Classic Pelizaeus-Merzbacher Disease; Pelizaeus-Merzbacher Disease, Adult; Pelizaeus-Merzbacher Disease, Atypical; Pelizaeus-Merzbacher Disease, Classic; Pelizaeus-Merzbacher Disease, Transitional; Transitional Pelizaeus-Merzbacher Disease; Adult Pelizaeus Merzbacher Disease; Adult Pelizaeus-Merzbacher Diseases; Atypical Pelizaeus Merzbacher Disease; Atypical Pelizaeus-Merzbacher Diseases; Classic Pelizaeus Merzbacher Disease; Cockayne Pelizaeus Merzbacher Disease; Diseases, Adult Pelizaeus-Merzbacher; Diseases, Atypical Pelizaeus-Merzbacher; Pelizaeus Merzbacher Disease; Pelizaeus Merzbacher Disease, Adult; Pelizaeus Merzbacher Disease, Atypical; Pelizaeus Merzbacher Disease, Classic; Pelizaeus Merzbacher Disease, Transitional; Pelizaeus-Merzbacher Diseases, Adult; Pelizaeus-Merzbacher Diseases, Atypical; Transitional Pelizaeus Merzbacher Disease; Cockayne-Pelizaeus-Merzbacher Disease

Networked: 88 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Paraplegia (Spastic Paraplegia)
2.	Leukoencephalopathies
3.	Canavan Disease (Leukodystrophy, Spongiform)
4.	Hereditary Nephritis (Alport Syndrome)
5.	Metachromatic Leukodystrophy (Sulfatide Lipidosis)

Experts

1.	Nave, Klaus-Armin: 6 articles (08/2015 - 04/2002)
2.	Inoue, Ken: 4 articles (04/2014 - 02/2012)
3.	Numata, Yurika: 3 articles (04/2014 - 05/2012)
4.	Morimura, Toshifumi: 3 articles (04/2014 - 05/2012)
5.	Edgar, Julia M: 3 articles (07/2011 - 05/2006)
6.	Boespflug-Tanguy, Odile: 3 articles (01/2011 - 01/2006)
7.	Takanashi, Jun-ichi: 2 articles (01/2015 - 02/2012)
8.	Hirano, Eriko: 2 articles (04/2014 - 03/2013)
9.	Nakamura, Shoko: 2 articles (04/2014 - 03/2013)
10.	Henneke, Marco: 2 articles (12/2012 - 07/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pelizaeus-Merzbacher Disease:

1.	Myelin Proteolipid ProteinIBA 09/01/2005 - "To study the effects of a point mutation found in Pelizaeus-Merzbacher disease (PMD) on the physicochemical and structural properties of the extracellular loop 4 of the myelin proteolipid protein (PLP), we synthesized the peptide PLP(181-230)Pro215 and one mutant PLP(181-230)Ser215 with regioselective formation of the two disulphide bridges Cys200-Cys219 and Cys183-Cys227. " 09/01/2012 - "Overexpression of the major myelin proteolipid protein (PLP) is detrimental to brain development and function and is the most common cause of Pelizaeus-Merzbacher disease. " 11/01/2009 - "Missense mutations in human PLP1, the gene encoding myelin proteolipid protein (PLP), cause dysmyelinating Pelizaeus-Merzbacher disease of varying severity. " 01/01/2009 - "PMD (Pelizaeus-Merzbacher disease), a CNS (central nervous system) disease characterized by shortened lifespan and severe neural dysfunction, is caused by mutations of the PLP1 (X-linked myelin proteolipid protein) gene. " 09/01/2005 - "Synthesis and secondary structure of loop 4 of myelin proteolipid protein: effect of a point mutation found in Pelizaeus-Merzbacher disease."
2.	DNA (Deoxyribonucleic Acid)IBA 12/01/1991 - "We describe a 5-generation family of 6 individuals with Pelizaeus-Merzbacher disease, Type I. DNA linkage study was done to establish carrier status. " 12/01/1991 - "Pelizaeus-Merzbacher disease: clinical and DNA-linkage study of an extended family." 03/15/1991 - "We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD). " 03/15/1991 - "Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA." 01/01/1986 - "A human PLP cDNA was isolated and employed to similarly analyze DNA from four patients diagnosed as having Pelizaeus-Merzbacher disease. "
3.	Biological Markers (Surrogate Marker)IBA 09/01/1994 - "Among the numerous leukodystrophies that have an early onset and no biochemical markers, Pelizaeus-Merzbacher disease (PMD) is one that can be identified using strict clinical criteria and demonstrating an abnormal formation of myelin that is restricted to the CNS in electrophysiological studies and brain magnetic resonance imaging (MRI). "
4.	Staphylococcal Protein A (A, Protein)IBA 06/01/2013 - "Proteomic and genome-wide transcriptome studies indicated that lamin B1 overexpression is associated with downregulation of proteolipid protein, a highly abundant myelin sheath component that was previously linked to another myelin-related disorder, Pelizaeus-Merzbacher disease. "
5.	lamin B1IBA 06/01/2013 - "Proteomic and genome-wide transcriptome studies indicated that lamin B1 overexpression is associated with downregulation of proteolipid protein, a highly abundant myelin sheath component that was previously linked to another myelin-related disorder, Pelizaeus-Merzbacher disease. "
6.	Protons (Proton)IBA 04/11/2006 - "Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination." 09/13/2005 - "Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination." 03/01/2004 - "Pelizaeus-Merzbacher disease: diffusion MR imaging and proton MR spectroscopy findings." 09/01/2003 - "Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease." 01/22/2002 - "To assess alterations in brain metabolites of patients with Pelizaeus-Merzbacher disease (PMD) with the proteolipid protein gene 1 (PLP1) duplications using quantitative proton MRS. "
7.	Proteins (Proteins, Gene)IBA 10/01/2012 - "Consistent with these findings, several mutant PLPs known to cause Pelizaeus-Merzbacher disease form predominantly disulfide-linked, high molecular weight aggregates in transfected COS7 cells that are arrested in the ER and are associated with increased expression of CHOP, a part of the cellular response to unfolded proteins. " 08/01/2003 - "The accumulation of misfolded proteins in the leukodystrophy Pelizaeus-Merzbacher disease activates this stress response, resulting in apoptosis of oligodendrocytes. " 04/12/2000 - "In man, mutations of these proteins cause Pelizaeus-Merzbacher disease (PMD), an X-linked dysmyelinating neuropathy. " 12/01/1994 - "Despite reported sparing of the peripheral nervous system in Pelizaeus-Merzbacher disease, we suggest that proteolipid protein gene products may influence the development of anterior horn cells or peripheral nervous system myelin and that some individuals affected with this disease may present with clinical and electromyographic features suggestive of neonatal spinal muscular atrophy." 09/01/1989 - "The other variants (types III-VI), which have sometimes been categorized as Pelizaeus-Merzbacher disease, may represent mutations in genes encoding other structural myelin proteins or proteins critical to myelination."
8.	Myelin ProteinsIBA 10/19/2011 - "Here, we have studied the molecular basis of Pelizaeus-Merzbacher disease, a leukodystrophy defined by mutations of the PLP1 gene and ER retention of two encoded tetraspan myelin proteins, PLP and DM20. " 05/01/1996 - "SPG2 shows mutations in one of the major myelin proteins, the proteolipid protein (PLP) gene, and is allelic to Pelizaeus-Merzbacher disease. " 03/01/1994 - "A rare X-linked dysmyelinating disorder of the central nervous system, Pelizaeus-Merzbacher disease (PMD), has also been mapped to Xq21-q22, and is caused by mutations in the proteolipid protein gene (PLP) which encodes two myelin proteins, PLP and DM20. " 07/01/2011 - "Mutations in the PLP1 gene encoding these myelin proteins cause Pelizaeus-Merzbacher disease and the related allelic disorder, spastic paraplegia type 2. Animal models of these diseases, particularly models lacking or overexpressing Plp1, have shed light on the interplay between axons and oligodendrocytes, and how one component influences the other." 09/01/1989 - "The other variants (types III-VI), which have sometimes been categorized as Pelizaeus-Merzbacher disease, may represent mutations in genes encoding other structural myelin proteins or proteins critical to myelination."
9.	Choline (Choline Chloride)IBA 02/01/2014 - "Furthermore, the lack of change in the choline-containing compounds concentration can be useful for differentiating Pelizaeus-Merzbacher disease from other white matter disorders. " 01/01/2015 - "MRS in human hypomyelination disorders, such as Pelizaeus-Merzbacher disease (PMD), is characterized by normal to elevated tNAA, elevated myo-inositol and creatine (Cr), and normal to decreased choline (Cho). " 03/01/1997 - "Proton MR spectroscopic findings in two patients with genetically defined Pelizaeus-Merzbacher disease revealed ratios of N-acetylaspartate/creatine and choline-containing compounds/creatine that were not significantly different from those found in a population of healthy subjects. "
10.	Bruton type agammaglobulinemiaIBA 01/01/1994 - "This contig extends distally from DXS366 to beyond DXS87 and includes the genes involved in X-linked agammaglobulinemia (btk), Fabry disease (GLA), and Pelizaeus-Merzbacher disease (PLP). " 05/01/1995 - "Several disease loci have been mapped to the Xq21.3-Xq22 region of the human X Chromosome (Chr) including X-linked agammaglobulinemia (XLA), Fabry disease, Alport syndrome, and Pelizaeus Merzbacher disease. " 05/01/1992 - "These amplifiable polymorphisms provided predictions of heterozygosity for Fabry disease and should be useful for diagnostic linkage analyses in Alport syndrome, X-linked cleft palate and ankyloglossia, Pelizaeus-Merzbacher disease, and X-linked agammaglobulinemia as well as sequence-tagged sites for gene mapping."

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 11/01/1999 - "In this study, transplantation of glial cell progenitors into the cerebral ventricles of the embryonic myelin-deficient rat, a model of Pelizaeus-Merzbacher disease, was performed to assess the ability of these cells to incorporate into the developing brain and produce myelin. " 11/01/2014 - "Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys."
2.	Ligation 04/01/2008 - "Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea." 07/01/2006 - "Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease."
3.	Catheters 04/01/1992 - "The author presents a four-year-old boy with Pelizaeus-Merzbacher disease who required anaesthesia during placement of PE (pressure equalization) tubes and a permanent silastic intravascular device (Broviac catheter). "
4.	Transplants (Transplant) 09/01/2003 - "The continuing definition of pathogenetic mechanisms operative in Pelizaeus-Merzbacher disease and spastic paraplegia type 2, together with advances in neural cell transplant therapy, augurs well for future treatment of the severe forms of Pelizaeus-Merzbacher disease."
5.	Tracheostomy 01/01/2012 - "Fatal tracheo-innominate artery fistula after tracheostomy in a patient with Pelizaeus-Merzbacher disease."