{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T13:32:10Z","timestamp":1784122330067,"version":"3.55.0"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","prd-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1016\/j.parkreldis.2017.06.010","type":"journal-article","created":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T08:30:11Z","timestamp":1497947411000},"page":"54-60","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"special_numbering":"C","title":["Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors"],"prefix":"10.1016","volume":"42","author":[{"given":"Thais Lampert","family":"Monte","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Santos","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estela da Rosa","family":"Reckziegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina Coutinho","family":"Augustin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas Dor\u00eddio","family":"Locks-Coelho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda Senna P.","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Luiz","family":"Pedroso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orlando","family":"Barsottini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando Regla","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria-Luiza","family":"Saraiva-Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6907-5068","authenticated-orcid":false,"given":"Laura Bannach","family":"Jardim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.parkreldis.2017.06.010_bib1","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1196-269","article-title":"Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2","volume":"14","author":"Pulst","year":"1996","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.parkreldis.2017.06.010_bib2","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/S1474-4422(14)70027-4","article-title":"Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study","volume":"13","author":"Vel\u00e1zquez-P\u00e9rez","year":"2014","journal-title":"Lancet Neurol."},{"issue":"6","key":"10.1016\/j.parkreldis.2017.06.010_bib3","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1007\/s12311-015-0753-x","article-title":"Pattern of Peripheral Nerve involvement in spinocerebellar ataxia type 2: a Neurophysiological assessment","volume":"15","author":"Bezerra","year":"2016","journal-title":"Cerebellum"},{"issue":"9","key":"10.1016\/j.parkreldis.2017.06.010_bib4","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1001\/archneur.1997.00550210011007","article-title":"Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds","volume":"54","author":"Sch\u00f6ls","year":"1997","journal-title":"Arch. Neurol."},{"issue":"1","key":"10.1016\/j.parkreldis.2017.06.010_bib5","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s12311-013-0510-y","article-title":"Rede Neurogenetica. Spinocerebellar ataxias in Brazil\u2013frequencies and modulating effects of related genes","volume":"13","author":"de Castilhos","year":"2014","journal-title":"Cerebellum"},{"issue":"1","key":"10.1016\/j.parkreldis.2017.06.010_bib6","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1007\/s12311-016-0761-5","article-title":"Non-motor and Extracerebellar features in spinocerebellar ataxia type 2","volume":"16","author":"Pedroso","year":"2017","journal-title":"Cerebellum"},{"key":"10.1016\/j.parkreldis.2017.06.010_bib7","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1212\/01.WNL.0000035625.19871.DC","article-title":"SCA-2 presenting as parkinsonism in an Alberta family. Clinical, genetic, and PET findings","volume":"59","author":"Furtado","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.parkreldis.2017.06.010_bib8","doi-asserted-by":"crossref","first-page":"1970","DOI":"10.1212\/01.wnl.0000269323.21969.db","article-title":"Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?","volume":"69","author":"Charles","year":"2007","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.parkreldis.2017.06.010_bib9","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1093\/hmg\/6.5.709","article-title":"Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families","volume":"6","author":"Cancel","year":"1997","journal-title":"Hum. Mol. Genet."},{"issue":"Pt 5","key":"10.1016\/j.parkreldis.2017.06.010_bib10","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1093\/brain\/119.5.1497","article-title":"Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3","volume":"119","author":"B\u00fcrk","year":"1996","journal-title":"Brain"},{"issue":"12","key":"10.1016\/j.parkreldis.2017.06.010_bib11","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1093\/hmg\/9.12.1753","article-title":"CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)","volume":"9","author":"Hayes","year":"2000","journal-title":"Hum. Mol. Genet."},{"issue":"Pt 10","key":"10.1016\/j.parkreldis.2017.06.010_bib12","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1093\/brain\/awh586","article-title":"Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset","volume":"128","author":"Pulst","year":"2005","journal-title":"Brain"},{"issue":"Pt 9","key":"10.1016\/j.parkreldis.2017.06.010_bib13","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1093\/brain\/awu174","article-title":"Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes","volume":"137","author":"Tezenas du Montcel","year":"2014","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.parkreldis.2017.06.010_bib14","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1007\/s12311-015-0666-8","article-title":"Rede Neurogenetica.ATXN3, ATXN7, CACNA1A, and RAI1 genes and mitochondrial polymorphism A10398G did not modify age at onset in spinocerebellar ataxia type 2 patients from South America","volume":"14","author":"Pereira","year":"2015","journal-title":"Cerebellum"},{"key":"10.1016\/j.parkreldis.2017.06.010_bib15","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1001\/archneur.64.7.1042","article-title":"Mithochondrial complex I gene variant associated with early age of onset in SCA2","volume":"64","author":"Simon","year":"2007","journal-title":"Arch. Neurol."},{"issue":"11","key":"10.1016\/j.parkreldis.2017.06.010_bib16","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","article-title":"Scale for the assessment and rating of ataxia: development of a new clinical scale","volume":"66","author":"Schmitz-H\u00fcbsch","year":"2006","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.parkreldis.2017.06.010_bib17","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1468-1331.2008.02078.x","article-title":"A\u00a0neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)","volume":"15","author":"Kieling","year":"2008","journal-title":"Eur. J. Neurol."},{"issue":"3","key":"10.1016\/j.parkreldis.2017.06.010_bib18","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","article-title":"Mini-mental state. A practical method for grading the cognitive state of patients for the clinician","volume":"12","author":"Folstein","year":"1975","journal-title":"J.\u00a0Psychiatr. Res."},{"key":"10.1016\/j.parkreldis.2017.06.010_bib19","series-title":"Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0","year":"2011"},{"key":"10.1016\/j.parkreldis.2017.06.010_bib20","series-title":"NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2","author":"Monte","year":"2017"},{"issue":"12","key":"10.1016\/j.parkreldis.2017.06.010_bib21","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1001\/jamaneurol.2014.2082","article-title":"Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis","volume":"71","author":"Neuenschwander","year":"2014","journal-title":"JAMA Neurol."},{"issue":"6","key":"10.1016\/j.parkreldis.2017.06.010_bib22","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.cell.2009.03.006","article-title":"Rethinking ALS: The FUS about TDP-43","volume":"136","author":"Lagier-Tourenne","year":"2009","journal-title":"Cell"},{"issue":"5","key":"10.1016\/j.parkreldis.2017.06.010_bib23","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.parkreldis.2008.09.005","article-title":"Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions","volume":"15","author":"Socal","year":"2009","journal-title":"Park. Relat. Disord."},{"issue":"Pt 11","key":"10.1016\/j.parkreldis.2017.06.010_bib24","doi-asserted-by":"crossref","first-page":"3316","DOI":"10.1093\/brain\/awv255","article-title":"No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra","volume":"138","author":"Sch\u00f6ls","year":"2015","journal-title":"Brain"},{"issue":"12","key":"10.1016\/j.parkreldis.2017.06.010_bib25","first-page":"3134","article-title":"Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2","volume":"260","author":"Fancellu","year":"2013","journal-title":"J.\u00a0Neurol."},{"issue":"56","key":"10.1016\/j.parkreldis.2017.06.010_bib26","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1001\/archneur.56.1.43","article-title":"Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction","volume":"1999","author":"Storey","year":"1999","journal-title":"Archives Neurology"},{"key":"10.1016\/j.parkreldis.2017.06.010_bib27","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.neulet.2004.04.051","article-title":"Analysis of European mitochondrial haplogroups with Alzheimer disease risk","volume":"365","author":"van der Walt","year":"2004","journal-title":"Neurosci. Lett."},{"issue":"4","key":"10.1016\/j.parkreldis.2017.06.010_bib28","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1086\/373937","article-title":"Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease","volume":"72","author":"van der Walt","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2017.06.010_bib29","doi-asserted-by":"crossref","first-page":"17170","DOI":"10.1038\/srep17170","article-title":"Female genetic distribution bias in mitochondrial genome observed in Parkinson's Disease patients in northern China","volume":"5","author":"Chu","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.parkreldis.2017.06.010_bib30","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.nbd.2016.09.002","article-title":"Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels","volume":"96","author":"Sen","year":"2016","journal-title":"Neurobiol. Dis."}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802017302171?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802017302171?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T10:44:23Z","timestamp":1668768263000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802017302171"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":30,"alternative-id":["S1353802017302171"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2017.06.010","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2017.06.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}