{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:28:44Z","timestamp":1753878524449,"version":"3.41.2"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T00:00:00Z","timestamp":1744243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171172"],"award-info":[{"award-number":["82171172"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014764","name":"China International Medical Foundation","doi-asserted-by":"publisher","award":["CIMF\u2010Z\u20102016\u201020\u20101801"],"award-info":[{"award-number":["CIMF\u2010Z\u20102016\u201020\u20101801"]}],"id":[{"id":"10.13039\/501100014764","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2021JJ40934"],"award-info":[{"award-number":["2021JJ40934"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background and Objectives<\/jats:title><jats:p>Hereditary sensory neuropathies (HSNs) are a group of genetically and clinically heterogeneous diseases. Our study aims to summarize the genetic and clinical features of HSNs in 10 Chinese families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical data from 10 families with HSNs were collected retrospectively. Genetic screening was performed by whole exome sequencing (WES). Repeated\u2010primed PCR and capillary electrophoresis were performed for WES\u2010negative patients to analyze repeat expansions in <jats:italic>RFC1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among the 10 probands with HSNs, eight cases were sporadic, and two had a positive family history. Six probands had early\u2010onset (onset age\u2009&lt;\u200920\u2009years). Seven probands presented with pure\u2010HSNs type, and three exhibited HSNs\u2010complex type with ataxia. Variants in the <jats:italic>NTRK1, SPTLC1, COX20, PUM1,<\/jats:italic> and <jats:italic>RFC1<\/jats:italic> genes were detected in six probands. A novel variant, c.444C&gt;A (p.N148K), in <jats:italic>NTRK1<\/jats:italic> was identified in an autosomal recessive inheritance family with HSAN\u2010IV, and a novel variant, c.182dup (p.H61Qfs*31), in <jats:italic>PUM1<\/jats:italic> was identified in a proband with adult\u2010onset paresthesia and mild cerebellar ataxia. Additionally, biallelic expansion of the pathogenic variant structure (AAGGG)exp repeat amplification in the <jats:italic>RFC1<\/jats:italic> gene was identified in a proband with sensory neuropathy, ataxia, and right vestibular hypofunction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The novel variants in <jats:italic>NTRK1<\/jats:italic> and <jats:italic>PUM1<\/jats:italic> expanded the genotypic spectrum of HSNs. This study highlights the associations between sensory neuropathies and other symptoms, particularly cerebellar ataxia. Given the ultra\u2010rarity of HSNs, future multicenter studies with larger cohorts may facilitate the identification of novel variants, improve genetic diagnostic rates, and enhance disease recognition.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.70020","type":"journal-article","created":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T06:33:51Z","timestamp":1744353231000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9114-1535","authenticated-orcid":false,"given":"Ke","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongzheng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengli","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3448-4264","authenticated-orcid":false,"given":"Lei","family":"Liu","sequence":"additional","affiliation":[{"name":"Health Management Center, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sen","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaobo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanqian","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunxiang","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huadong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4212-9737","authenticated-orcid":false,"given":"Yongzhi","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Radiology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengmao","family":"Hu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3823-8148","authenticated-orcid":false,"given":"Ruxu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102024\u2010333436"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572\u2010022\u201000365\u20107"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad328"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896\u2010485"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.013"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt357"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab072"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.986504"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e31827e5762"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2019.11.011"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12560"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2024.01.004"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010011\u20100804\u20104"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.05.012"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.09.009"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12842"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2013.1808"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2017.08.3516"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010011\u20106397\u2010y"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38120"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2006.1894"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac344"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab135"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010023\u201001433\u20106"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2024.167330"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1101\/2024.07.03.24309787"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010019\u20100372\u20104"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15310"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2022.07.501"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25902"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.02.017"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.12.017"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.02.006"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.02.012"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010016\u20100543\u20107"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201798875"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910\u2010019\u20100974\u20103"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13037"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T08:40:23Z","timestamp":1750840823000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,10]]},"references-count":41,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1111\/jns.70020"],"URL":"https:\/\/doi.org\/10.1111\/jns.70020","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"type":"print","value":"1085-9489"},{"type":"electronic","value":"1529-8027"}],"subject":[],"published":{"date-parts":[[2025,4,10]]},"assertion":[{"value":"2025-02-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70020"}}