{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T19:37:12Z","timestamp":1786995432654,"version":"build-2736575974"},"reference-count":27,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","prd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism & Related Disorders"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1016\/j.parkreldis.2019.11.007","type":"journal-article","created":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T11:33:44Z","timestamp":1573040024000},"page":"125-133","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["Novel mutations in the SPAST gene cause hereditary spastic paraplegia"],"prefix":"10.1016","volume":"69","author":[{"given":"Zeyu","family":"Zhu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guohua","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiguo","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feixia","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wotu","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaili","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojun","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingwen","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shihua","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinghua","family":"Luan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huidong","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengdi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2019.11.007_bib1","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1093\/brain\/awv178","article-title":"Hereditary spastic paraplegia SPG4: what is known and not known about the disease","author":"Solowska","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib2","doi-asserted-by":"crossref","unstructured":"Blackstone C. Converging cellular themes for the hereditary spastic paraplegias. Curr. Opin. Neurobiol.. p. 139-146.","DOI":"10.1016\/j.conb.2018.04.025"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib3","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.expneurol.2014.06.011","article-title":"Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms","author":"Lo Giudice","year":"2014","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib4","volume":"4","author":"D\u00fcrr","year":"2012","journal-title":"Spastic paraplegia"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib5","first-page":"817","article-title":"Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation","author":"Nielsen","year":"2005","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib6","first-page":"97","article-title":"Mental deficiency in three families with SPG4 spastic paraplegia","author":"Ribai","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib7","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1523\/JNEUROSCI.3159-07.2008","article-title":"Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia","author":"Solowska","year":"2008","journal-title":"J. Neurosci."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib8","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.bbamcr.2011.08.010","article-title":"The AAA ATPase spastin links microtubule severing to membrane modelling","volume":"1823","author":"Lumb","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib9","series-title":"Spastin, the Protein Mutated in Autosomal Dominant Hereditary Spastic Paraplegia, Is Involved in Microtubule Dynamics","first-page":"153","author":"Errico","year":"2002"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib10","series-title":"Linking Axonal Degeneration to Microtubule Remodeling by Spastin-Mediated Microtubule Severing","first-page":"599","author":"Evans","year":"2005"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib11","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1083\/jcb.201211045","article-title":"An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome","volume":"202","author":"Allison","year":"2013","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib12","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0888-7543(03)00011-9","article-title":"The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia","author":"Ciccarelli","year":"2003","journal-title":"Genomics"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib13","series-title":"MIT Domainia","first-page":"6","author":"Hurley","year":"2008"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib14","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.bbamcr.2011.08.010","article-title":"The AAA ATPase spastin links microtubule severing to membrane modelling","author":"Lumb","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib15","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.1523\/JNEUROSCI.3309-13.2014","article-title":"Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics","author":"Solowska","year":"2014","journal-title":"J. Neurosci."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib16","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib17","series-title":"Clinical Features and Gene Mutation Analysis of Patients with Hereditary Spastic Paraplegia","author":"TY","year":"2011"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib18","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2006.046425","article-title":"Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia","volume":"44","author":"Depienne","year":"2007","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0378-1119(02)01056-9","article-title":"Pushing the limits of the scanning mechanism for initiation of translation","volume":"299","author":"Kozak","year":"2002","journal-title":"Gene"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib20","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/1741-7007-6-31","article-title":"A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform","volume":"6","author":"Mancuso","year":"2008","journal-title":"BMC Biol."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib21","first-page":"2561","article-title":"Microtubule-severing enzymes at the cutting edge","author":"Sharp","year":"2012","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib22","series-title":"Recognition of C-Terminal Amino Acids in Tubulin by Pore Loops in Spastin Is Important for Microtubule Severing","first-page":"995","author":"White","year":"2007"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib23","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1038\/sj.ejhg.5200528","article-title":"Hereditary spastic paraplegia caused by mutations in the SPG4 gene","author":"Burger","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib24","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1093\/hmg\/ddy419","article-title":"Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse","volume":"28","author":"Qiang","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib25","series-title":"Expansion of Mutation Spectrum, Determination of Mutation Cluster Regions and Predictive Structural Classification of SPAST Mutations in Hereditary Spastic Paraplegia","first-page":"401","author":"Shoukier","year":"2009"},{"key":"10.1016\/j.parkreldis.2019.11.007_bib26","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1093\/hmg\/ddx125","article-title":"Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation","author":"Leo","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.parkreldis.2019.11.007_bib27","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1091\/mbc.e17-01-0047","article-title":"Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin","author":"Solowska","year":"2017","journal-title":"Mol. Biol. Cell"}],"container-title":["Parkinsonism & Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019304791?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802019304791?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:17:42Z","timestamp":1761178662000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802019304791"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":27,"alternative-id":["S1353802019304791"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.11.007","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel mutations in the SPAST gene cause hereditary spastic paraplegia","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2019.11.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}