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

Abstract

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.

• Authors: Patrizia Dacci, Franco Taroni, Eleonora Dalla Bella, Micaela Milani, Davide Pareyson, Michela Morbin, Giuseppe Lauria
• Journal: Journal of the peripheral nervous system : JPNS (J Peripher Nerv Syst) Vol. 17 Issue 4 Pg. 422-5 (Dec 2012) ISSN: 1529-8027 [Electronic] United States
• PMID: 23279346 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2012 Peripheral Nerve Society.

Chemical References

• Myelin P0 Protein
• DNA

Topics

• Aged
• Amino Acid Substitution
• DNA (genetics)
• Female
• Gait Disorders, Neurologic (etiology)
• Glucose Intolerance (etiology)
• Humans
• Muscle Fatigue (physiology)
• Muscle Weakness (economics, etiology)
• Mutation (genetics, physiology)
• Myelin P0 Protein (genetics)
• Neural Conduction
• Neurologic Examination
• Pain (etiology)
• Peripheral Nervous System Diseases (complications, genetics, pathology)
• Polyradiculoneuropathy (etiology, genetics, pathology)