{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T15:46:40Z","timestamp":1772034400692,"version":"3.50.1"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,2,20]],"date-time":"2023-02-20T00:00:00Z","timestamp":1676851200000},"content-version":"vor","delay-in-days":50,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009780","name":"Region Sk\u00e5ne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011077","name":"Sk\u00e5nes universitetssjukhus","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011077","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Parkinsonism & Related Disorders"],"published-print":{"date-parts":[[2023]]},"DOI":"10.1016\/j.prdoa.2023.100189","type":"journal-article","created":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T23:45:47Z","timestamp":1677023147000},"page":"100189","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Co-occurrence of CLCN2-related leukoencephalopathy and SPG56"],"prefix":"10.1016","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1978-0209","authenticated-orcid":false,"given":"Wejdan","family":"Almasoudi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christer","family":"Nilsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7316-4976","authenticated-orcid":false,"given":"Ulrika","family":"Kjellstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5019-6254","authenticated-orcid":false,"given":"Kevin","family":"Sandeman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3201-8198","authenticated-orcid":false,"given":"Andreas","family":"Puschmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.prdoa.2023.100189_b0005","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1016\/S1474-4422(19)30235-2","article-title":"Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches","volume":"18","author":"Shribman","year":"2019","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.prdoa.2023.100189_b0010","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.ajhg.2012.11.001","article-title":"Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia","volume":"91","author":"Tesson","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.prdoa.2023.100189_b0015","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.ejpn.2016.05.013","article-title":"CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia","volume":"20","author":"Kariminejad","year":"2016","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.prdoa.2023.100189_b0020","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1007\/s00415-016-8066-7","article-title":"Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56\/CYP2U1 family","volume":"263","author":"Leonardi","year":"2016","journal-title":"J Neurol"},{"key":"10.1016\/j.prdoa.2023.100189_b0025","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.jocn.2019.06.039","article-title":"Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families","volume":"67","author":"Zulfiqar","year":"2019","journal-title":"J Clin Neurosci"},{"key":"10.1016\/j.prdoa.2023.100189_b0030","unstructured":"M.S. van der Knaap, C. Depienne, F. Sedel, T.E.M. Abbink. CLCN2-Related Leukoencephalopathy. 2015 Nov 5 [updated 2021 May 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA); 1993-2023."},{"key":"10.1016\/j.prdoa.2023.100189_b0035","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20210846","article-title":"Implication of folate deficiency in CYP2U1 loss of function","volume":"218","author":"Pujol","year":"2021","journal-title":"J Exp Med"},{"key":"10.1016\/j.prdoa.2023.100189_b0040","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1212\/WNL.0000000000000812","article-title":"Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation","volume":"83","author":"Di Bella","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.prdoa.2023.100189_b0045","doi-asserted-by":"crossref","first-page":"3264","DOI":"10.1167\/iovs.09-4887","article-title":"Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2","volume":"51","author":"Edwards","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.prdoa.2023.100189_b0050","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.prdoa.2023.100189_b0055","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s00415-013-7206-6","article-title":"Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis","volume":"261","author":"Citterio","year":"2014","journal-title":"J Neurol"},{"key":"10.1016\/j.prdoa.2023.100189_b0060","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1186\/s12883-019-1390-7","article-title":"CLCN2-related leukoencephalopathy: a case report and review of the literature","volume":"19","author":"Guo","year":"2019","journal-title":"BMC Neurol"},{"key":"10.1016\/j.prdoa.2023.100189_b0065","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.parkreldis.2020.02.015","article-title":"New generation genetic testing entering the clinic","volume":"73","author":"Gorcenco","year":"2020","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.prdoa.2023.100189_b0070","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of disease phenotypes resulting from multilocus genomic variation","volume":"376","author":"Posey","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.prdoa.2023.100189_b0075","doi-asserted-by":"crossref","DOI":"10.1038\/s41436-021-01289-5","article-title":"Residual risk for additional recessive diseases in consanguineous couples","author":"AlAbdi","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.prdoa.2023.100189_b0080","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.braindev.2018.07.011","article-title":"A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan","volume":"41","author":"Hoshi","year":"2019","journal-title":"Brain Dev"},{"key":"10.1016\/j.prdoa.2023.100189_b0085","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S1474-4422(13)70053-X","article-title":"Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study","volume":"12","author":"Depienne","year":"2013","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.prdoa.2023.100189_b0090","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/j.parkreldis.2015.02.013","article-title":"Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation","volume":"21","author":"Hanagasi","year":"2015","journal-title":"Parkinsonism Relat Disord"},{"key":"10.1016\/j.prdoa.2023.100189_b0095","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1159\/000478089","article-title":"Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations","volume":"78","author":"Zeydan","year":"2017","journal-title":"Eur Neurol"},{"key":"10.1016\/j.prdoa.2023.100189_b0100","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1136\/jnnp-2016-315525","article-title":"A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)","volume":"88","author":"Giorgio","year":"2017","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.prdoa.2023.100189_b0105","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmedgenet-2020-107369","article-title":"High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics","volume":"59","author":"Thomas","year":"2022","journal-title":"J Med Genet"}],"container-title":["Clinical Parkinsonism & Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2590112523000075?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2590112523000075?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T01:46:44Z","timestamp":1762912004000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2590112523000075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":21,"alternative-id":["S2590112523000075"],"URL":"https:\/\/doi.org\/10.1016\/j.prdoa.2023.100189","relation":{},"ISSN":["2590-1125"],"issn-type":[{"value":"2590-1125","type":"print"}],"subject":[],"published":{"date-parts":[[2023]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Co-occurrence of CLCN2-related leukoencephalopathy and SPG56","name":"articletitle","label":"Article Title"},{"value":"Clinical Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.prdoa.2023.100189","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Author(s). Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"100189"}}