{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T07:23:28Z","timestamp":1777533808230,"version":"3.51.4"},"reference-count":17,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1016\/j.jns.2013.12.030","type":"journal-article","created":{"date-parts":[[2014,1,3]],"date-time":"2014-01-03T05:19:59Z","timestamp":1388726399000},"page":"214-217","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy"],"prefix":"10.1016","volume":"338","author":[{"given":"Agnieszka","family":"\u0141ugowska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Mierzewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Bekiesi\u0144ska-Figatowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"El\u017cbieta","family":"Szczepanik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicja","family":"Goszcza\u0144ska-Ciuchta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Bednarska-Makaruk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2013.12.030_bb0005","series-title":"The metabolic and molecular bases of inherited disease","first-page":"695","article-title":"Metachromatic leukodystrophy","author":"von Figura","year":"2001"},{"key":"10.1016\/j.jns.2013.12.030_bb0010","series-title":"GeneReviews [Internet]. Seattle: University of Washington","article-title":"Arylsulfatase A deficiency","author":"Fluharty","year":"1993"},{"key":"10.1016\/j.jns.2013.12.030_bb0015","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/S0009-9120(97)00033-7","article-title":"Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele","volume":"30","author":"\u0141ugowska","year":"1997","journal-title":"Clin Biochem"},{"key":"10.1016\/j.jns.2013.12.030_bb0020","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ajmg.10369","article-title":"Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy","volume":"110","author":"Tylki-Szyma\u0144ska","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jns.2013.12.030_bb0025","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0009-8981(87)90068-4","article-title":"A simple chromogenic assay for arylsulfatase A","volume":"164","author":"Lee-Vaupel","year":"1987","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.jns.2013.12.030_bb0030","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1399-0004.2005.00451.x","article-title":"Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland","volume":"68","author":"\u0141ugowska","year":"2005","journal-title":"Clin Genet"},{"key":"10.1016\/j.jns.2013.12.030_bb0035","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000154295","article-title":"A method for rapid detection of arylsulfatase A pseudodeficiency mutations","volume":"45","author":"Ricketts","year":"1995","journal-title":"Hum Hered"},{"key":"10.1016\/j.jns.2013.12.030_bb0040","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.pediatrneurol.2012.12.005","article-title":"Evaluation of the child with acute ataxia: a systematic review","volume":"49","author":"Whelan","year":"2013","journal-title":"Pediatr Neurol"},{"issue":"6","key":"10.1016\/j.jns.2013.12.030_bb0045","doi-asserted-by":"crossref","first-page":"e20218","DOI":"10.1371\/journal.pone.0020218","article-title":"Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?","volume":"6","author":"\u0141ugowska","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.jns.2013.12.030_bb0050","doi-asserted-by":"crossref","first-page":"6068","DOI":"10.1523\/JNEUROSCI.5597-08.2009","article-title":"Psychosine accumulates in membrane microdomains in the brain of Krabbe patients, disrupting the raft architecture","volume":"29","author":"White","year":"2009","journal-title":"J Neurosci"},{"key":"10.1016\/j.jns.2013.12.030_bb0055","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1476-511X-10-28","article-title":"Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice","volume":"10","author":"Blomqvist","year":"2011","journal-title":"Lipids Health Dis"},{"key":"10.1016\/j.jns.2013.12.030_bb0060","first-page":"87","volume":"74\u201381","year":"2005"},{"key":"10.1016\/j.jns.2013.12.030_bb0065","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ejpn.2008.04.011","article-title":"Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy","volume":"13","author":"Haberlandt","year":"2009","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.jns.2013.12.030_bb0070","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ana.1076","article-title":"Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G\u2192A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family","volume":"50","author":"Comabella","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jns.2013.12.030_bb0075","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1017\/S0317167100120931","article-title":"Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation","volume":"29","author":"Coulter-Mackie","year":"2002","journal-title":"Can J Neurol Sci"},{"key":"10.1016\/j.jns.2013.12.030_bb0080","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1212\/WNL.42.7.1396","article-title":"Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy","volume":"42","author":"Fressinaud","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2013.12.030_bb0085","series-title":"Neurology of hereditary metabolic disease of children","author":"Lyon","year":"2006"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X13031018?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X13031018?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,5]],"date-time":"2019-08-05T19:24:40Z","timestamp":1565033080000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X13031018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3]]},"references-count":17,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["S0022510X13031018"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2013.12.030","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2013.12.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}