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August 2013

Whither Hope for Pharmacological Treatment of Charcot-Marie-Tooth Disease Type 1A?

Author Affiliations
  • 1Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles
  • 2Institute for Pediatric Regenerative Medicine, University of California–Davis, Sacramento
JAMA Neurol. 2013;70(8):969-971. doi:10.1001/jamaneurol.2013.3285

Charcot-Marie-Tooth disease type 1A (CMT1A) is a dominantly inherited, slowly progressive, often-disabling symmetrical distal sensorimotor polyneuropathy, caused by duplication of 1.5 Mb on the short arm of chromosome 17 with consequent trisomy for PMP22 (peripheral myelin protein 22) encoding a peripheral nervous system myelin protein, that affects about 1 in 2000 people. Other than braces and other orthopedic interventions, no effective treatments of CMT1A are available. A report in 2004 by Passage et al1 found that treating PMP22 transgenic mice with a dose of ascorbic acid (AA; vitamin C) that would be equivalent to administration of 4 g of AA per day to an average adult human diminished peripheral nerve PMP22 mRNA abundance 10-fold. The findings that it also restored the peripheral nerve myelin sheath thickness to normal, improved clinical neurological function, and enhanced life span were greeted with great excitement among neuromuscular physicians.

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