{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T08:12:31Z","timestamp":1785831151791,"version":"3.56.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2021,11,20]],"date-time":"2021-11-20T00:00:00Z","timestamp":1637366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,11,20]],"date-time":"2021-11-20T00:00:00Z","timestamp":1637366400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["RVO 64165"],"award-info":[{"award-number":["RVO 64165"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.1007\/s10072-021-05757-3","type":"journal-article","created":{"date-parts":[[2021,11,20]],"date-time":"2021-11-20T08:02:52Z","timestamp":1637395372000},"page":"3273-3281","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease"],"prefix":"10.1007","volume":"43","author":[{"given":"Jitka","family":"M\u00e1jovsk\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Hennig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Nestrasil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne A.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Jahnov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Van\u011b\u010dkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Magner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4877-9642","authenticated-orcid":false,"given":"Petr","family":"Du\u0161ek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,20]]},"reference":[{"key":"5757_CR1","unstructured":"Toro C, Shirvan L, Tifft C. HEXA Disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. GeneReviews((R)). Seattle (WA)1993."},{"issue":"8","key":"5757_CR2","doi-asserted-by":"publisher","first-page":"1953","DOI":"10.1007\/s00415-019-09364-3","volume":"266","author":"H Jahnova","year":"2019","unstructured":"Jahnova H, Poupetova H, Jireckova J, Vlaskova H, Kostalova E, Mazanec R et al (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(8):1953\u20131959","journal-title":"J Neurol"},{"issue":"2","key":"5757_CR3","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(2):119\u2013123","journal-title":"Genet Med"},{"issue":"10","key":"5757_CR4","doi-asserted-by":"publisher","first-page":"2055","DOI":"10.1212\/WNL.43.10.2055","volume":"43","author":"JY Streifler","year":"1993","unstructured":"Streifler JY, Gornish M, Hadar H, Gadoth N (1993) Brain imaging in late-onset GM2 gangliosidosis. Neurology 43(10):2055\u20132058","journal-title":"Neurology"},{"key":"5757_CR5","doi-asserted-by":"crossref","unstructured":"Steiner KM, Brenck J, Goericke S, Timmann D. Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. BMJ Case Rep. 2016;2016.","DOI":"10.1136\/bcr-2016-214634"},{"issue":"4","key":"5757_CR6","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1002\/ana.410170413","volume":"17","author":"H Mitsumoto","year":"1985","unstructured":"Mitsumoto H, Sliman RJ, Schafer IA, Sternick CS, Kaufman B, Wilbourn A et al (1985) Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol 17(4):378\u2013385","journal-title":"Ann Neurol"},{"issue":"1","key":"5757_CR7","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/S0022-510X(96)00233-X","volume":"145","author":"E Hund","year":"1997","unstructured":"Hund E, Grau A, Fogel W, Forsting M, Cantz M, Kustermann-Kuhn B et al (1997) Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. J Neurol Sci 145(1):25\u201331","journal-title":"J Neurol Sci"},{"issue":"2","key":"5757_CR8","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1016\/j.gene.2013.06.030","volume":"527","author":"Z Jamrozik","year":"2013","unstructured":"Jamrozik Z, Lugowska A, Golebiowski M, Krolicki L, Maczewska J, Kuzma-Kozakiewicz M (2013) Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. Gene 527(2):679\u2013682","journal-title":"Gene"},{"issue":"8","key":"5757_CR9","first-page":"2037","volume":"26","author":"M Inglese","year":"2005","unstructured":"Inglese M, Nusbaum AO, Pastores GM, Gianutsos J, Kolodny EH, Gonen O (2005) MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis. AJNR Am J Neuroradiol 26(8):2037\u20132042","journal-title":"AJNR Am J Neuroradiol"},{"key":"5757_CR10","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1192\/bjp.155.3.410","volume":"155","author":"J Streifler","year":"1989","unstructured":"Streifler J, Golomb M, Gadoth N (1989) Psychiatric features of adult GM2 gangliosidosis. Br J Psychiatry 155:410\u2013413","journal-title":"Br J Psychiatry"},{"issue":"5","key":"5757_CR11","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1136\/practneurol-2017-001665","volume":"17","author":"AW Barritt","year":"2017","unstructured":"Barritt AW, Anderson SJ, Leigh PN, Ridha BH (2017) Late-onset Tay-Sachs disease. Pract Neurol 17(5):396\u2013399","journal-title":"Pract Neurol"},{"issue":"5","key":"5757_CR12","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1002\/mus.24146","volume":"49","author":"A Deik","year":"2014","unstructured":"Deik A, Saunders-Pullman R (2014) Atypical presentation of late-onset Tay-Sachs disease. Muscle Nerve 49(5):768\u2013771","journal-title":"Muscle Nerve"},{"key":"5757_CR13","doi-asserted-by":"crossref","unstructured":"Peters AS, Markovic K, Schramm A, Schwab S, Heuss D. Late onset hexosaminidase A deficiency in a young adult. Eur J Neurol. 2008;15(7):e70\u20131; author reply e2\u20133.","DOI":"10.1111\/j.1468-1331.2008.02170.x"},{"key":"5757_CR14","doi-asserted-by":"crossref","unstructured":"Holzer HT, Boschann F, Hennermann JB, Hahn G, Hermann A, von der Hagen M, et al. Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis. J Neurol. 2021.","DOI":"10.1007\/s00415-021-10492-y"},{"key":"5757_CR15","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/bs.irn.2018.09.011","volume":"143","author":"M Mascalchi","year":"2018","unstructured":"Mascalchi M, Vella A (2018) Neuroimaging Applications in Chronic Ataxias. Int Rev Neurobiol 143:109\u2013162","journal-title":"Int Rev Neurobiol"},{"issue":"12","key":"5757_CR16","doi-asserted-by":"publisher","first-page":"2050","DOI":"10.1212\/01.WNL.0000165960.04422.D0","volume":"64","author":"H Oba","year":"2005","unstructured":"Oba H, Yagishita A, Terada H, Barkovich AJ, Kutomi K, Yamauchi T et al (2005) New and reliable MRI diagnosis for progressive supranuclear palsy. Neurology 64(12):2050\u20132055","journal-title":"Neurology"},{"issue":"2","key":"5757_CR17","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1002\/acn3.504","volume":"5","author":"K Reetz","year":"2018","unstructured":"Reetz K, Rodriguez-Labrada R, Dogan I, Mirzazade S, Romanzetti S, Schulz JB et al (2018) Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2. Ann Clin Transl Neurol 5(2):128\u2013137","journal-title":"Ann Clin Transl Neurol"},{"issue":"1","key":"5757_CR18","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1186\/s12883-020-01738-9","volume":"20","author":"A Sugiyama","year":"2020","unstructured":"Sugiyama A, Yokota H, Yamanaka Y, Mukai H, Yamamoto T, Hirano S et al (2020) Vertical pons hyperintensity and hot cross bun sign in cerebellar-type multiple system atrophy and spinocerebellar ataxia type 3. BMC Neurol 20(1):157","journal-title":"BMC Neurol"},{"issue":"8","key":"5757_CR19","doi-asserted-by":"publisher","first-page":"1405","DOI":"10.3174\/ajnr.A4760","volume":"37","author":"A Klaes","year":"2016","unstructured":"Klaes A, Reckziegel E, Franca MC Jr, Rezende TJ, Vedolin LM, Jardim LB et al (2016) MR Imaging in Spinocerebellar Ataxias: A Systematic Review. AJNR Am J Neuroradiol 37(8):1405\u20131412","journal-title":"AJNR Am J Neuroradiol"},{"issue":"6","key":"5757_CR20","doi-asserted-by":"publisher","first-page":"1561","DOI":"10.1093\/brain\/awz102","volume":"142","author":"TW Rattay","year":"2019","unstructured":"Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Sohn AS et al (2019) FAHN\/SPG35: a narrow phenotypic spectrum across disease classifications. Brain 142(6):1561\u20131572","journal-title":"Brain"},{"issue":"7","key":"5757_CR21","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1056\/NEJMra1006610","volume":"366","author":"M Anheim","year":"2012","unstructured":"Anheim M, Tranchant C, Koenig M (2012) The Autosomal Recessive Cerebellar Ataxias. N Engl J Med 366(7):636\u2013646","journal-title":"N Engl J Med"},{"issue":"2","key":"5757_CR22","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1007\/s00247-014-2998-9","volume":"45","author":"S Andronikou","year":"2015","unstructured":"Andronikou S, Pillay T, Gabuza L, Mahomed N, Naidoo J, Hlabangana LT et al (2015) Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image. Pediatr Radiol 45(2):258\u2013272","journal-title":"Pediatr Radiol"},{"key":"5757_CR23","doi-asserted-by":"crossref","unstructured":"Lefter S, O OM, Sweeney B, Ryan AM. Late-Onset Tay-Sachs Disease in an Irish Family. Mov Disord Clin Pract. 2021;8(1):106\u201310.","DOI":"10.1002\/mdc3.13096"},{"issue":"1","key":"5757_CR24","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1590\/S0004-282X2009000100024","volume":"67","author":"C Godeiro-Junior","year":"2009","unstructured":"Godeiro-Junior C, Felicio AC, Benites V, Chieia MA, Oliveira AS (2009) Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. Arq Neuropsiquiatr 67(1):105\u2013106","journal-title":"Arq Neuropsiquiatr"},{"issue":"3","key":"5757_CR25","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1002\/mds.870090325","volume":"9","author":"R Inzelberg","year":"1994","unstructured":"Inzelberg R, Korczyn AD (1994) Parkinsonism in adult-onset GM2 gangliosidosis. Mov Disord 9(3):375\u2013377","journal-title":"Mov Disord"},{"key":"5757_CR26","unstructured":"Patterson M. Niemann-Pick Disease Type C. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. GeneReviews((R)). Seattle (WA)1993."},{"issue":"6","key":"5757_CR27","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1007\/s002340050597","volume":"40","author":"M Steinlin","year":"1998","unstructured":"Steinlin M, Blaser S, Boltshauser E (1998) Cerebellar involvement in metabolic disorders: a pattern-recognition approach. Neuroradiology 40(6):347\u2013354","journal-title":"Neuroradiology"},{"issue":"3","key":"5757_CR28","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1111\/1754-9485.12569","volume":"61","author":"N Fagan","year":"2017","unstructured":"Fagan N, Alexander A, Irani N, Saade C, Naffaa L (2017) Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review. J Med Imaging Radiat Oncol 61(3):344\u2013352","journal-title":"J Med Imaging Radiat Oncol"},{"issue":"1","key":"5757_CR29","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.pediatrneurol.2013.08.008","volume":"50","author":"RH Jadav","year":"2014","unstructured":"Jadav RH, Sinha S, Yasha TC, Aravinda H, Gayathri N, Rao S et al (2014) Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. Pediatr Neurol 50(1):85\u201395","journal-title":"Pediatr Neurol"},{"issue":"4","key":"5757_CR30","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1097\/RMR.0000000000000174","volume":"27","author":"F D'Arco","year":"2018","unstructured":"D\u2019Arco F, Hanagandi P, Ganau M, Krishnan P, Taranath A (2018) Neuroimaging Findings in Lysosomal Disorders: 2018 Update. Top Magn Reson Imaging 27(4):259\u2013274","journal-title":"Top Magn Reson Imaging"},{"issue":"1","key":"5757_CR31","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1007\/s002340050012","volume":"42","author":"YC Chang","year":"2000","unstructured":"Chang YC, Huang CC, Chen CY, Zimmerman RA (2000) MRI in acute neuropathic Gaucher\u2019s disease. Neuroradiology 42(1):48\u201350","journal-title":"Neuroradiology"},{"issue":"3","key":"5757_CR32","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.ymgme.2020.11.008","volume":"132","author":"J Majovska","year":"2021","unstructured":"Majovska J, Nestrasil I, Paulson A, Nascene D, Jurickova K, Hlavata A et al (2021) White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis. Mol Genet Metab 132(3):189\u2013197","journal-title":"Mol Genet Metab"},{"issue":"1","key":"5757_CR33","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1176\/jnp.10.1.10","volume":"10","author":"GM MacQueen","year":"1998","unstructured":"MacQueen GM, Rosebush PI, Mazurek MF (1998) Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiatry Clin Neurosci 10(1):10\u201319","journal-title":"J Neuropsychiatry Clin Neurosci"},{"issue":"1","key":"5757_CR34","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1002\/ana.410160105","volume":"16","author":"Z Argov","year":"1984","unstructured":"Argov Z, Navon R (1984) Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency. Ann Neurol 16(1):14\u201320","journal-title":"Ann Neurol"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-021-05757-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-021-05757-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-021-05757-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T09:14:44Z","timestamp":1650446084000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-021-05757-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,20]]},"references-count":34,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["5757"],"URL":"https:\/\/doi.org\/10.1007\/s10072-021-05757-3","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,20]]},"assertion":[{"value":"19 July 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 November 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 November 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Institutional Review Board of the General University Hospital in Prague (Ethic Committee Approval Number 1471\/19).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}