Myelin disorders: Causes and perspectives of Charcot-Marie-Tooth neuropathy.

Journal of Molecular Neuroscience : MN
Gerd Meyer zu HörsteMichael W Sereda

Abstract

Charcot-Marie-Tooth (CMT) disease is a common hereditary neuropathy that causes progressive distally pronounced muscle weakness and can lead to life-long disability in patients. In most cases, the disorder has been associated with a partial duplication of human chromosome 17 (CMT1A), causing 1.5-fold overexpression of the peripheral myelin protein 22 kDa (PMP22). Increased PMP22 gene dosage results in demyelination, secondary axonal loss, and neurogenic muscle atrophy. Experimental therapeutic approaches based on the role of progesterone and ascorbic acid in myelin formation recently have reached preclinical proof-of-principle trials in rodents. It was shown that progesterone receptor antagonists can reduce PMP22 overexpression and clinical severity in a CMT1A rat model. Furthermore, ascorbic acid treatment reduced premature death and demyelination in a CMT1A mouse model. Thus, basic research has opened up new vistas for the understanding and treatment of hereditary neuropathies.

Citations

Dec 2, 2011·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Andreu ViaderJeffrey Milbrandt
Apr 23, 2014·Molecular Neurobiology·Mette RichnerChristian Bjerggaard Vaegter
May 12, 2009·Experimental Neurology·Romain Cartoni, Jean-Claude Martinou
Jan 14, 2009·Molecular and Cellular Neurosciences·Julia JungnickelClaudia Grothe
Jan 26, 2016·Neural Regeneration Research
May 4, 2010·Journal of the Peripheral Nervous System : JPNS·Susanne QuintesKlaus-Armin Nave
Jun 7, 2014·Journal of Neuroscience Research·A FaroniA Verkhratsky
Jun 13, 2009·Experimental Neurology·Julia JungnickelClaudia Grothe
Mar 8, 2007·Annual Review of Neuroscience·Zu-Lin ChenSidney Strickland
Jul 23, 2011·Experimental Cell Research·Noelle CallizotPhilippe Poindron

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