Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy

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

Abstract

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.

References

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

Citations

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

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