{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T07:37:51Z","timestamp":1788593871326,"version":"build-2803163510"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T00:00:00Z","timestamp":1554681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission","doi-asserted-by":"publisher","award":["Z151100003915126"],"award-info":[{"award-number":["Z151100003915126"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>The tropomyosin\u2010receptor kinase fused gene (<jats:italic>TFG<\/jats:italic>) functions in vesicles formation and egress at the endoplasmic reticulum (ER). A heterozygous missense mutation c.854C\u2009&gt;\u2009T (p.Pro285Leu) within <jats:italic>TFG<\/jats:italic> has been reported as causative for hereditary motor and sensory neuropathy with proximal predominance. Here, we describe two unrelated Chinese pedigrees with 13 affected members harboring the same variant. The clinical, electrophysiological and pathological findings are consistent with motor neuron disease with sensory neuropathy. The main symptoms were painful muscle cramps, slowly progressive proximal predominant weakness, muscle atrophy, fasciculation and distal sensory disturbance. Electromyography revealed widespread denervation and reinnervation. Sural nerve biopsy revealed severe loss of myelinated fibers. Electron microscopy revealed aggregation of ER with enlarged lumen and small vesicles in the remaining myelinated and unmyelinated axons. The mitochondria are smaller in Schwann cells and axons. Some unmyelinated axons showed disappearance of neurofilament and microtubular structures. This is the first report of c.854C\u2009&gt;\u2009T mutation within <jats:italic>TFG<\/jats:italic> in Chinese population. Our findings not only extend the geographical and phenotypic spectrum of <jats:italic>TFG\u2010<\/jats:italic>related neurological disorders, but also confirm the abnormalities of ER and mitochondria in sural nerves.<\/jats:p>","DOI":"10.1111\/neup.12555","type":"journal-article","created":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T07:40:25Z","timestamp":1554709225000},"page":"194-199","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Sural nerve pathology in <i>TFG<\/i>\u2010associated motor neuron disease with sensory neuropathy"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2741-7426","authenticated-orcid":false,"given":"Jia","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3004-6758","authenticated-orcid":false,"given":"Lingchao","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiying","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Gang","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoxia","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.15.11.6118"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V94.9.3265"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20044"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201489032"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1709120114"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.04.062"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2014.02.011"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-018-0552-x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410613"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.014"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.11.021"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000758"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.08.035"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23060"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-017-0508-6"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.5692\/clinicalneurol.53.1199"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-300783"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.5692\/clinicalneurol.53.1200"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00021-8"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.1250"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2017.01084"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.08.1528"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.04.001"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.5692\/clinicalneurol.cn-000650"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050406"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12487"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12974-016-0788-z"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12555","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/neup.12555","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12555","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T16:20:51Z","timestamp":1694362851000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.12555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,8]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1111\/neup.12555"],"URL":"https:\/\/doi.org\/10.1111\/neup.12555","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,8]]},"assertion":[{"value":"2018-12-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}