{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T17:35:17Z","timestamp":1782927317199,"version":"3.54.5"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002957","name":"Technische Universit\u00e4t Dresden","doi-asserted-by":"publisher","award":["60432"],"award-info":[{"award-number":["60432"]}],"id":[{"id":"10.13039\/501100002957","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002957","name":"Technische Universit\u00e4t Dresden","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002957","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1007\/s00415-021-10492-y","type":"journal-article","created":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T17:03:37Z","timestamp":1615309417000},"page":"2259-2262","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis"],"prefix":"10.1007","volume":"268","author":[{"given":"Hans Thomas","family":"H\u00f6lzer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Boschann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia B.","family":"Hennermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"von der Hagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3486-2824","authenticated-orcid":false,"given":"Victoria","family":"T\u00fcngler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,9]]},"reference":[{"issue":"W1","key":"10492_CR1","doi-asserted-by":"publisher","first-page":"W162","DOI":"10.1093\/nar\/gkaa241","volume":"48","author":"M Holtgrewe","year":"2020","unstructured":"Holtgrewe M, Stolpe O, Nieminen M, Mundlos S, Knaus A, Kornak U, Seelow D, Segebrecht L, Spielmann M, Fischer-Zirnsak B, Boschann F, Scholl U, Ehmke N, Beule D (2020) VarFish: comprehensive DNA variant analysis for diagnostics and research. Nucleic Acids Res 48(W1):W162\u2013W169. https:\/\/doi.org\/10.1093\/nar\/gkaa241","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"10492_CR2","doi-asserted-by":"publisher","first-page":"D1207","DOI":"10.1093\/nar\/gkaa1043","volume":"49","author":"S K\u00f6hler","year":"2021","unstructured":"K\u00f6hler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Y\u00fcksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN (2021) The human phenotype ontology in 2021. Nucleic Acids Res 49(D1):D1207\u2013D1217. https:\/\/doi.org\/10.1093\/nar\/gkaa1043","journal-title":"Nucleic Acids Res"},{"key":"10492_CR3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) ACMG Laboratory Quality Assurance Committee 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. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"10492_CR4","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1097\/01.gim.0000154300.84107.75","volume":"7","author":"O Neudorfer","year":"2005","unstructured":"Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH (2005) Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 7:119\u2013123. https:\/\/doi.org\/10.1097\/01.gim.0000154300.84107.75","journal-title":"Genet Med"},{"key":"10492_CR5","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1080\/146608200300079536","volume":"1","author":"BR Brooks","year":"2000","unstructured":"Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron Diseases (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1:293\u2013299. https:\/\/doi.org\/10.1080\/146608200300079536","journal-title":"Amyotroph Lateral Scler Other Motor Neuron Disord"},{"key":"10492_CR6","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1373\/clinchem.2006.082727","volume":"53","author":"DC Martin","year":"2007","unstructured":"Martin DC, Mark BL, Triggs-Raine BL, Natowicz MR (2007) Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England. Clin Chem 53:392\u2013398. https:\/\/doi.org\/10.1373\/clinchem.2006.082727","journal-title":"Clin Chem"},{"key":"10492_CR7","doi-asserted-by":"publisher","first-page":"1953","DOI":"10.1007\/s00415-019-09364-3","volume":"266","author":"H Jahnov\u00e1","year":"2019","unstructured":"Jahnov\u00e1 H, Poup\u011btov\u00e1 H, Jire\u010dkov\u00e1 J, Vl\u00e1\u0161kov\u00e1 H, Ko\u0161\u0165\u00e1lov\u00e1 E, Mazanec R, Zumrov\u00e1 A, Me\u010d\u00ed\u0159 P, Mu\u0161ov\u00e1 Z, Magner M (2019) Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease. J Neurol 266:1953\u20131959. https:\/\/doi.org\/10.1007\/s00415-019-09364-3","journal-title":"J Neurol"},{"key":"10492_CR8","unstructured":"Orphanet Report Series, Rare Diseases collection (2020) Number 1: https:\/\/www.orpha.net\/orphacom\/cahiers\/docs\/GB\/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Accessed 27 Jan 2021"},{"issue":"7","key":"10492_CR9","doi-asserted-by":"publisher","first-page":"e705","DOI":"10.1212\/WNL.0000000000008959","volume":"94","author":"CD Stephen","year":"2020","unstructured":"Stephen CD, Balkwill D, James P, Haxton E, Sassower K, Schmahmann JD, Eichler F, Lewis R (2020) Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis. Neurology 94(7):e705\u2013e717. https:\/\/doi.org\/10.1212\/WNL.0000000000008959","journal-title":"Neurology"},{"key":"10492_CR10","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1093\/brain\/121.4.561","volume":"121","author":"JD Schmahmann","year":"1998","unstructured":"Schmahmann JD, Sherman JC (1998) The cerebellar cognitive affective syndrome. Brain 121:561\u2013579. https:\/\/doi.org\/10.1093\/brain\/121.4.561","journal-title":"Brain"},{"key":"10492_CR11","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1093\/brain\/awx317","volume":"141","author":"F Hoche","year":"2018","unstructured":"Hoche F, Guell X, Vangel MG, Sherman JC, Schmahmann JD (2018) The cerebellar cognitive affective\/Schmahmann syndrome scale. Brain 141:248\u2013270. https:\/\/doi.org\/10.1093\/brain\/awx317","journal-title":"Brain"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-021-10492-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-021-10492-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-021-10492-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,5]],"date-time":"2021-06-05T14:15:08Z","timestamp":1622902508000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-021-10492-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,9]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10492"],"URL":"https:\/\/doi.org\/10.1007\/s00415-021-10492-y","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,9]]},"assertion":[{"value":"6 February 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 February 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 February 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"All procedures were in accordance with the Declaration of Helsinki (1964) and its later amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The subjects of this study provided written informed consent to publish the data reported in the article for scientific purposes.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}