{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:21:41Z","timestamp":1791231701008,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T00:00:00Z","timestamp":1663200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002799","name":"Capital Medical University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002799","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To explore the clinical and genetic spectrum of hereditary spastic paraplegia (HSP) in Chinese children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This retrospective study was conducted between January 2014 and October 2021 in children clinically diagnosed with either pure HSP (pHSP) or complex HSP (cHSP).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We investigated 45 children (32 males, 13 females; mean age [SD] at symptom onset 4\u2009years [7\u2009months]). clinically diagnosed with HSP and identified genetic causes in 35 patients. Most patients with autosomal dominant HSP had pHSP (16\/18), whereas most patients with autosomal recessive HSP tended to have cHSP (14\/16). <jats:italic>SPG11<\/jats:italic> was the most common autosomal recessive subtype, followed by <jats:italic>FA2H\/SPG35<\/jats:italic>, whereas <jats:italic>SPAST\/SPG4<\/jats:italic> was the most frequent cause of autosomal dominant HSP. Two patients with <jats:italic>CPT1C<\/jats:italic> mutations presented with a complex phenotype. Meanwhile, 10 patients were found to have likely pathogenic variants\/variants of uncertain clinical significance in six genes related to HSP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p><jats:italic>SPG11<\/jats:italic> and <jats:italic>SPG4<\/jats:italic> were the most frequent subtypes in Chinese children with autosomal recessive HSP and autosomal dominant HSP. However, the prevalence of <jats:italic>SPG4<\/jats:italic> was much lower than that in adults, which might be explained by the late onset of the disease. On the other hand, <jats:italic>FA2H\/SPG35<\/jats:italic> was common in our cohort, while it contributed to only a small proportion of adult cases, which might be explained by its rapid progression and early death in some patients. We also expanded the genetic and clinical spectra of <jats:italic>SPG73<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15385","type":"journal-article","created":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T01:40:24Z","timestamp":1663292424000},"page":"416-423","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7143-6851","authenticated-orcid":false,"given":"Jiaping","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changhong","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiuwei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhua","family":"Bao","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junlan","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaotun","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Children's Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Paediatric Neurology Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14564"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp056"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.1707"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000585"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ped4.12297"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14547"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.12816\/0003258"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00981"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-018-0269-1"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40035-019-0157-9"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2021.136108"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-018-0545-9"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz102"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2013.02.026"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-018-0538-8"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.010"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21205"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22122"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.001"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24611"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8179-z"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2015.00067"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09633-1"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(19)30235-2"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv178"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy285"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.717"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.4769"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.05.004"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.15385","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/dmcn.15385","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.15385","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T21:40:33Z","timestamp":1717537233000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.15385"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,15]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1111\/dmcn.15385"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.15385","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,15]]},"assertion":[{"value":"2022-04-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}