Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

Patrizia Dacci, Franco Taroni, Eleonora Dalla Bella, Micaela Milani, Davide Pareyson, Michela Morbin, Giuseppe Lauria

Research output: Contribution to journalArticlepeer-review


Mutations in myelin protein zero (MPZ) protein result in a wide spectrum of peripheral neuropathies, from congenital hypomyelinating to late onset sensory and motor axonal forms. In some patients, neuropathic pain can be a prominent symptom, making the diagnosis challenging mainly in those with other risk factors for neuropathy. We describe a 77-year-old woman with impaired glucose tolerance presenting with rapidly progressive axonal neuropathy leading to excruciating pain and severe weakness of lower limbs within 2 years from the onset. Her son abruptly complained of similar painful symptoms at the age of 47 years. Molecular analysis revealed a novel heterozygous missense mutation (c.106A>G) in MPZ exon 2, causing the substitution of arginine-36 with glycine in the extracellular domain. Our observation suggests that MPZ-related neuropathy should be considered in the diagnostic work up of patients with painful axonal neuropathy even presenting with rapid progression and at a very late age of onset.

Original languageEnglish
Pages (from-to)422-425
Number of pages4
JournalJournal of the Peripheral Nervous System
Issue number4
Publication statusPublished - Dec 2012


  • genetic
  • inherited neuropathy
  • myelin protein zero
  • neuropathic pain
  • peripheral neuropathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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