{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T14:36:48Z","timestamp":1777905408696,"version":"3.51.4"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81125009"],"award-info":[{"award-number":["81125009"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research Foundation for Distinguished Scholar of Zhejiang University","award":["188020\u2013193810101\/089"],"award-info":[{"award-number":["188020\u2013193810101\/089"]}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","prd-journal.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism & Related Disorders"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.parkreldis.2018.02.010","type":"journal-article","created":{"date-parts":[[2018,2,9]],"date-time":"2018-02-09T13:22:38Z","timestamp":1518182558000},"page":"88-94","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"special_numbering":"C","title":["Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration"],"prefix":"10.1016","volume":"49","author":[{"given":"Yi-Jun","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Chao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai-Lin","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Xi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wang","family":"Ni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Fu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi-Ying","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"Suppl 1","key":"10.1016\/j.parkreldis.2018.02.010_bib1","doi-asserted-by":"crossref","first-page":"S21","DOI":"10.1016\/j.parkreldis.2015.08.012","article-title":"Neurodegenerations with brain iron accumulation","volume":"22","author":"Schneider","year":"2016","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib2","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1038\/ng1826","article-title":"PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron","volume":"38","author":"Morgan","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib3","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1590\/0004-282X20160080","article-title":"A\u00a0diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging","volume":"74","author":"Salomao","year":"2016","journal-title":"Arq. Neuropsiquiatr."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib4","doi-asserted-by":"crossref","first-page":"4636","DOI":"10.1007\/s12035-016-9991-2","article-title":"Identification of novel compound mutations in PLA2G6-associated neurodegeneration patient with characteristic MRI imaging","volume":"54","author":"Guo","year":"2017","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib5","first-page":"64","article-title":"A\u00a0novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case","volume":"33","author":"Wang","year":"2016","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1016\/j.parkreldis.2018.02.010_bib6","doi-asserted-by":"crossref","first-page":"3387","DOI":"10.3892\/etm.2016.3761","article-title":"Monozygotic twins with infantile neuroaxonal dystrophy: a case report and literature review","volume":"12","author":"Li","year":"2016","journal-title":"Exp. Ther. Med."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib7","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1111\/j.1468-1331.2012.03856.x","article-title":"Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration","volume":"20","author":"Zhang","year":"2013","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib8","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/j.1468-1331.2008.02397.x","article-title":"Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy","volume":"16","author":"Wu","year":"2009","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib9","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.parkreldis.2015.01.012","article-title":"Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration","volume":"21","author":"Xie","year":"2015","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib10","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.parkreldis.2012.07.016","article-title":"Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease","volume":"19","author":"Gui","year":"2013","journal-title":"Park. Relat. Disord."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib11","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.neulet.2012.02.078","article-title":"Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population","volume":"514","author":"Tian","year":"2012","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib12","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/ajmg.b.32012","article-title":"PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease","volume":"159B","author":"Lu","year":"2012","journal-title":"Am. J. Med. Genet. B. Neuropsychiatr. Genet."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib13","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1212\/WNL.0b013e318221acd3","article-title":"PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort","volume":"77","author":"Shi","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2018.02.010_bib14","doi-asserted-by":"crossref","first-page":"e2811","DOI":"10.1016\/j.neurobiolaging.2014.07.003","article-title":"Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system","volume":"35","author":"Liu","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.parkreldis.2018.02.010_bib15","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1111\/cge.13015","article-title":"The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis","volume":"92","author":"Liu","year":"2017","journal-title":"Clin. Genet."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib16","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1136\/jmedgenet-2013-101634","article-title":"Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism","volume":"50","author":"Koroglu","year":"2013","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib17","doi-asserted-by":"crossref","DOI":"10.1371\/annotation\/cb01a74a-3330-4412-8040-2a94842420ed","article-title":"New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations","volume":"8","author":"Salih","year":"2013","journal-title":"PLoS. One"},{"key":"10.1016\/j.parkreldis.2018.02.010_bib18","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ymgme.2014.03.008","article-title":"PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease","volume":"112","author":"Illingworth","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib19","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1111\/cge.13008","article-title":"PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia","volume":"92","author":"Ozes","year":"2017","journal-title":"Clin. Genet."},{"key":"10.1016\/j.parkreldis.2018.02.010_bib20","first-page":"1","article-title":"Neurodegeneration with brain iron accumulation: diagnosis and management","volume":"8","author":"Hogarth","year":"2015","journal-title":"J.\u00a0Mov. Disord"},{"key":"10.1016\/j.parkreldis.2018.02.010_bib21","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/mdc3.12030","article-title":"Atypical PLA2G6-associated neurodegeneration: social communication impairment, dystonia and response to deep brain stimulation","volume":"1","author":"Cif","year":"2014","journal-title":"Mov. Disord. Clin. Pract."}],"container-title":["Parkinsonism & Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802018300464?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802018300464?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,19]],"date-time":"2018-12-19T17:41:45Z","timestamp":1545241305000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802018300464"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":21,"alternative-id":["S1353802018300464"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2018.02.010","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2018.02.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}