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Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy
Author(s) -
Dacci Patrizia,
Taroni Franco,
Bella Eleonora Dalla,
Milani Micaela,
Pareyson Davide,
Morbin Michela,
Lauria Giuseppe
Publication year - 2012
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/j.1529-8027.2012.00443.x
Subject(s) - missense mutation , peripheral neuropathy , weakness , medicine , myelin , neuropathic pain , exon , sensory loss , peripheral myelin protein 22 , pediatrics , mutation , surgery , endocrinology , anesthesia , genetics , biology , central nervous system , gene , diabetes mellitus
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.