{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T04:26:55Z","timestamp":1778732815383,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,12,21]],"date-time":"2012-12-21T00:00:00Z","timestamp":1356048000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in myelin protein zero (<jats:styled-content style=\"fixed-case\">MPZ<\/jats:styled-content>) 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\u2010year\u2010old woman with impaired glucose tolerance presenting with rapidly progressive axonal neuropathy leading to excruciating pain and severe weakness of lower limbs within 2\u2009years 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&gt;G) in <jats:styled-content style=\"fixed-case\">MPZ<\/jats:styled-content> exon 2, causing the substitution of arginine\u201036 with glycine in the extracellular domain. Our observation suggests that <jats:styled-content style=\"fixed-case\">MPZ<\/jats:styled-content>\u2010related 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.<\/jats:p>","DOI":"10.1111\/j.1529-8027.2012.00443.x","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T05:33:56Z","timestamp":1356154436000},"page":"422-425","source":"Crossref","is-referenced-by-count":8,"title":["Myelin protein zero <scp>Arg36Gly<\/scp> mutation with very late onset and rapidly progressive painful neuropathy"],"prefix":"10.1111","volume":"17","author":[{"given":"Patrizia","family":"Dacci","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora Dalla","family":"Bella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micaela","family":"Milani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Morbin","sequence":"additional","affiliation":[{"name":"Neuropathology, IRCCS Foundation \u201cCarlo Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Lauria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,12,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.02.005"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/122.2.281"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.72.2.230"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.01.006"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2006.090076"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2006.112276"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.4.859"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/glia.20751"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.11.015"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh048"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.07.006"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1529-8027.2012.00443.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1529-8027.2012.00443.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T08:44:34Z","timestamp":1700556274000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1529-8027.2012.00443.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1111\/j.1529-8027.2012.00443.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1529-8027.2012.00443.x","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12]]}}}