{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:41:28Z","timestamp":1762508488603,"version":"3.40.5"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T00:00:00Z","timestamp":1621209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:p>Charcot\u2013Marie\u2013Tooth disease (CMT) 4F is an autosomal recessive, hereditary peripheral neuropathy, mostly caused by mutations in the periaxin gene (<jats:italic>PRX<\/jats:italic>). This article reports neuropathological findings of the spinal nerve roots, spinal cord, and brain of a patient with CMT4F and a D651N missense mutation in <jats:italic>PRX<\/jats:italic>. The patient was a 74\u2010year\u2010old woman who had a history of peripheral neuropathy with onset at the age of 30\u2009years. She also had a history of infantile paralysis at the age of 18\u2009months. The most pronounced autopsy finding was diffuse enlargement of anterior and posterior nerve roots, accentuated at the lumbo\u2010sacral levels. On microscopy, the swollen nerve roots showed a loss of large\u2010diameter myelinated fibers and formation of numerous onion bulbs. Most of the onion bulbs lacked the central, regenerating thin myelin sheaths, and in large\u2010diameter nerve fibers whose axons had been lost, collagen fibers occupied the center of the onion bulbs. Some nerve roots formed glial bundles at the proximal end. The spinal cord showed degeneration of the gracile fascicles, and the lumbar segment anterior horn showed an asymmetric neuronal loss with rarefaction of the neuropil. The brain did not show any notable changes except for multiple foci of a radial microcolumnar arrangement of neurons in the cerebral cortex. Degeneration of the lumbar segment anterior horn is most likely secondary to the anterior radiculopathy, but a localized circulatory disturbance is another possibility.<\/jats:p>","DOI":"10.1111\/neup.12731","type":"journal-article","created":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T01:56:55Z","timestamp":1621303015000},"page":"281-287","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Neuropathology of the spinal nerve roots, spinal cord, and brain in the first autopsied case of <scp>Charcot\u2013Marie\u2013Tooth<\/scp> disease <scp>4F<\/scp> with a D651N mutation in the periaxin gene"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7162-9293","authenticated-orcid":false,"given":"Masayuki","family":"Shintaku","sequence":"first","affiliation":[{"name":"Department of Pathology Hikone Municipal Hospital  Hikone Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kengo","family":"Maeda","sequence":"additional","affiliation":[{"name":"Department of Neurology Vories Memorial Hospital  Omi\u2010hachiman Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Shiohara","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Medicine and Diagnostic Pathology Shiga University of Medical Science  Ohtsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomo","family":"Namura","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Medicine and Diagnostic Pathology Shiga University of Medical Science  Ohtsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoji","family":"Kushima","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Medicine and Diagnostic Pathology Shiga University of Medical Science  Ohtsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/62.7.699"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/64.5.363"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1385\/NMM:8:1-2:75"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23775"},{"key":"e_1_2_6_6_1","first-page":"7","article-title":"Current status of genetic diagnosis of Charcot\u2010Marie\u2010Tooth disease. Variety of the disease\u2010causing genes","volume":"68","author":"Hashiguchi A","year":"2016","journal-title":"Brain Nerve"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.4.415"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10213"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.490300312"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181fd6314"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0338-5"},{"journal-title":"Muscle Nerve","article-title":"Sudden death and demyelination of the recurrent laryngeal and phrenic nerves in Charcot\u2010Marie\u2010Tooth disease type 4F","author":"Maeda K","key":"e_1_2_6_12_1"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1385\/NMM:8:1-2:23"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.35.5.648"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198007000-00003"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(94)90208-9"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00327-0"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.121.12.4265"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/318208"},{"key":"e_1_2_6_20_1","first-page":"53","volume-title":"Pathology of the Spinal Cord","author":"Hughes JT","year":"1978"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198607000-00001"},{"key":"e_1_2_6_22_1","first-page":"309","article-title":"Lower motor neuron disease associated with a focal onion bulb formation in an anterior spinal root","volume":"26","author":"Mizusawa H","year":"1987","journal-title":"Neurol Med"},{"key":"e_1_2_6_23_1","first-page":"531","article-title":"Onion bulb formation incidentally found in the posterior spinal nerve root","volume":"27","author":"Shintaku M","year":"1987","journal-title":"Neurol Med"},{"key":"e_1_2_6_24_1","first-page":"334","article-title":"A neuropathological study of healed chronic anterior poliomyelitis","volume":"8","author":"Iwata M","year":"1978","journal-title":"Neurol Med"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2012.01327.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1161\/hs0102.101923"},{"key":"e_1_2_6_27_1","first-page":"73","volume-title":"Peripheral Neuropathy","author":"Berthold CH","year":"1993"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.10.001"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000114507.30388.7E"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12731","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/neup.12731","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12731","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T19:45:31Z","timestamp":1693338331000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.12731"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,17]]},"references-count":28,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1111\/neup.12731"],"URL":"https:\/\/doi.org\/10.1111\/neup.12731","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"type":"print","value":"0919-6544"},{"type":"electronic","value":"1440-1789"}],"subject":[],"published":{"date-parts":[[2021,5,17]]},"assertion":[{"value":"2020-12-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}