Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy

Pediatrics International : Official Journal of the Japan Pediatric Society
Tomohiro ToriiAkito Tanoue


Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy that causes severe dysmyelination in the central nervous system in infancy and early childhood. Many previous studies showed that various proteolipid protein 1 (plp1) mutations, including duplications, point mutations, and deletions, lead to oligodendrocyte dysfunction in patients with PMD. PMD onset and clinical severity range widely, depending on the type of plp1 mutation. Patients with PMD exhibit a delayed mental and physical development phenotype, but specific pharmacological therapy and clinical treatment for PMD are not yet well established. This review describes PMD pathology and establishment of new clinical treatment for PMD. These findings support the development of a new therapy for PMD and these treatments may improve the quality of life in patients with PMD.


Sep 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·D Pham-DinhA Dautigny
Oct 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·L D HudsonS Gencic
Dec 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J A TrofatterM E Hodes
Mar 1, 1988·Pediatric Neurology·C ShimomuraK Tsuchiya
Mar 1, 1981·The Journal of Heredity·G F Chernoff
Jan 1, 1981·Acta Neuropathologica·W O RenierB G Ter Haar
Jul 1, 1994·Nature Genetics·H KobayashiH G Marks
Jul 1, 1995·Brain Pathology·R P Skoff
Aug 1, 1996·Nature Genetics·A Gow, R A Lazzarini
Apr 15, 1997·Journal of the Neurological Sciences·W I VerhagenI de Wijs
May 20, 1998·Pediatric Neurology·Atsuo NezuKen Inoue
Apr 28, 1999·Trends in Genetics : TIG·Karen J Woodward, Sue Malcolm
Sep 1, 1951·The Journal of Physiology·W A H RUSHTON
Sep 29, 2004·Journal of the Neurological Sciences·Eun Sil LeeGrace M Hobson
Feb 4, 2005·Brain : a Journal of Neurology·Nicole I WolfKaren J Woodward
Feb 16, 2005·Human Mutation·Christian A HübnerAndreas Gal
Feb 2, 2006·The Journal of Cell Biology·Xinghua YinBruce D Trapp
Mar 9, 2007·Molecular and Cellular Neurosciences·Jennifer L Orthmann-MurphySteven S Scherer
Sep 12, 2008·Brain & Development·Tetsuya KibeAkiko Iwaki
Oct 22, 2008·Oncogene·D N Dhanasekaran, E P Reddy
Mar 31, 2009·Journal of Neuroscience Research·Maurizio D'AntonioLawrence Wrabetz
Sep 22, 2009·Current Opinion in Neurobiology·Julia M Edgar, Klaus-Armin Nave
Nov 26, 2010·American Journal of Human Genetics·Miora FeinsteinOhad S Birk
Jan 19, 2012·Nature Reviews. Molecular Cell Biology·Claudio Hetz
Jun 19, 2012·Nature Medicine·Gesine SaherKlaus-Armin Nave
Oct 12, 2012·Science Translational Medicine·Nobuko UchidaStephen A Back
Oct 12, 2012·Science Translational Medicine·Nalin GuptaDavid H Rowitch
Feb 5, 2013·Journal of Neuroimmunology·James GoolsbyDavid Trisler
Jan 15, 2014·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Yuki MiyamotoJunji Yamauchi
Feb 18, 2014·Journal of Neurology·Yurika NumataKen Inoue


May 12, 2015·Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi·Chiharu MiyatakeOsamu Fujino
May 11, 2015·Biochemical and Biophysical Research Communications·Yuki MiyamotoJunji Yamauchi
May 26, 2016·Neuroscience Letters·Jeremy J LaukkaR P Skoff
May 29, 2016·Clinical Genetics·A CharzewskaD Hoffman-Zacharska
Oct 8, 2017·Neurochemical Research·Reiji YamazakiYoshihide Yamaguchi
May 9, 2019·Physiological Reviews·Christine StadelmannMikael Simons
Dec 13, 2019·Expert Review of Neurotherapeutics·Mahmoud Reza AshrafiAli Reza Tavasoli
May 19, 2020·Brain : a Journal of Neurology·Fredrik I GruenenfelderJulia M Edgar
Aug 23, 2020·International Journal of Molecular Sciences·Maryam GulAmmar Chaudhry
Nov 27, 2016·Anatomical Science International·Masanao IkedaHirohide Takebayashi
Aug 15, 2017·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Gena Heidary
Nov 16, 2019·Cells·Sarah KuhnYvonne Dombrowski
Jun 24, 2017·Acta Neuropathologica·Marjo S van der Knaap, Marianna Bugiani
May 12, 2017·Neurogenetics·Maher Awni ShahrourOrly Elpeleg

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.

Glut1 Deficiency

Glut1 deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Follow the latest research on Glut1 deficiency with this feed.

Hereditary Sensory Autonomic Neuropathy

Hereditary Sensory Autonomic Neuropathies are a group of inherited neurodegenerative disorders characterized clinically by loss of sensation and autonomic dysfunction. Here is the latest research on these neuropathies.

Separation Anxiety

Separation anxiety is a type of anxiety disorder that involves excessive distress and anxiety with separation. This may include separation from places or people to which they have a strong emotional connection with. It often affects children more than adults. Here is the latest research on separation anxiety.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.