{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:01:14Z","timestamp":1780470074746,"version":"3.54.1"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:00:00Z","timestamp":1778284800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:00:00Z","timestamp":1778284800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82001272"],"award-info":[{"award-number":["82001272"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003819","name":"Natural Science Foundation of Hubei Province","doi-asserted-by":"publisher","award":["2025AFB499"],"award-info":[{"award-number":["2025AFB499"]}],"id":[{"id":"10.13039\/501100003819","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Science Foundation of Tongji Hospital","award":["2024A24"],"award-info":[{"award-number":["2024A24"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"DOI":"10.1007\/s12311-026-02019-w","type":"journal-article","created":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T06:51:39Z","timestamp":1778309499000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White Matter Changes without Cerebellar Atrophy"],"prefix":"10.1007","volume":"25","author":[{"given":"Yongkang","family":"Fang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanbing","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suiqiang","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiwei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanshan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,9]]},"reference":[{"issue":"1","key":"2019_CR1","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1086\/422014","volume":"75","author":"Y Ikeda","year":"2004","unstructured":"Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet. 2004;75(1):3\u201316.","journal-title":"Am J Hum Genet"},{"issue":"7","key":"2019_CR2","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1212\/WNL.57.7.1310","volume":"57","author":"MJ Sobrido","year":"2001","unstructured":"Sobrido MJ, Cholfin JA, Perlman S, Pulst SM, Geschwind DH. SCA8 repeat expansions in ataxia: a controversial association. Neurology. 2001;57(7):1310\u20132.","journal-title":"Neurology"},{"issue":"2","key":"2019_CR3","first-page":"277","volume":"59","author":"J Sawada","year":"2020","unstructured":"Sawada J, Katayama T, Tokashiki T, Kikuchi S, Kano K, Takahashi K, et al. The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins. Internal medicine (Tokyo. Japan). 2020;59(2):277\u201383.","journal-title":"Japan)"},{"issue":"5","key":"2019_CR4","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1111\/neup.12894","volume":"43","author":"Y Yonenobu","year":"2023","unstructured":"Yonenobu Y, Beck G, Kido K, Maeda N, Yamashita R, Inoue K, et al. Neuropathology of spinocerebellar ataxia type 8: Common features and unique tauopathy. Neuropathology. 2023;43(5):351\u201361.","journal-title":"Neuropathology"},{"issue":"11","key":"2019_CR5","doi-asserted-by":"publisher","first-page":"e14095","DOI":"10.15252\/emmm.202114095","volume":"13","author":"BA Perez","year":"2021","unstructured":"Perez BA, Shorrock HK, Banez-Coronel M, Zu T, Romano LE, Laboissonniere LA, et al. CCG*CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. EMBO Mol Med. 2021;13(11):e14095.","journal-title":"EMBO Mol Med"},{"key":"2019_CR6","doi-asserted-by":"publisher","first-page":"106795","DOI":"10.1016\/j.nbd.2025.106795","volume":"206","author":"AK Nietz","year":"2025","unstructured":"Nietz AK, Popa LS, Carter RE, Gerhart ML, Manikonda K, Ranum LPW, et al. Cerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8). Neurobiol Dis. 2025;206:106795.","journal-title":"Neurobiol Dis"},{"key":"2019_CR7","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.jns.2017.08.3256","volume":"382","author":"Y Hu","year":"2017","unstructured":"Hu Y, Hashimoto Y, Ishii T, Rayle M, Soga K, Sato N, et al. Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects. J Neurol Sci. 2017;382:87\u201390.","journal-title":"J Neurol Sci"},{"issue":"1","key":"2019_CR8","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1007\/s12311-018-0955-0","volume":"18","author":"M Samukawa","year":"2019","unstructured":"Samukawa M, Hirano M, Saigoh K, Kawai S, Hamada Y, Takahashi D, et al. PSP-Phenotype in SCA8: Case Report and Systemic Review. Cerebellum. 2019;18(1):76\u201384.","journal-title":"Cerebellum"},{"key":"2019_CR9","doi-asserted-by":"publisher","first-page":"1198309","DOI":"10.3389\/fnhum.2023.1198309","volume":"17","author":"S Chen","year":"2023","unstructured":"Chen S, Li S, Liu Y, She R, Jiang W. Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature. Front Hum Neurosci. 2023;17:1198309.","journal-title":"Front Hum Neurosci"},{"issue":"4","key":"2019_CR10","doi-asserted-by":"publisher","first-page":"274","DOI":"10.3988\/jcn.2013.9.4.274","volume":"9","author":"JS Kim","year":"2013","unstructured":"Kim JS, Son TO, Youn J, Ki CS, Cho JW. Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease. J Clin Neurol (Seoul Korea). 2013;9(4):274\u20139.","journal-title":"J Clin Neurol (Seoul Korea)"},{"issue":"8","key":"2019_CR11","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. MR Imaging in Spinocerebellar Ataxias: A Systematic Review. AJNR Am J Neuroradiol. 2016;37(8):1405\u201312.","journal-title":"AJNR Am J Neuroradiol"},{"issue":"1","key":"2019_CR12","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/S0022-510X(00)00446-9","volume":"182","author":"Y Ikeda","year":"2000","unstructured":"Ikeda Y, Shizuka-Ikeda M, Watanabe M, Schmitt M, Okamoto K, Shoji M. Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI. J Neurol Sci. 2000;182(1):76\u20139.","journal-title":"J Neurol Sci"},{"issue":"7","key":"2019_CR13","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1007\/s00234-021-02682-2","volume":"63","author":"S Cocozza","year":"2021","unstructured":"Cocozza S, Pontillo G, De Michele G, Di Stasi M, Guerriero E, Perillo T, et al. Conventional MRI findings in hereditary degenerative ataxias: a pictorial review. Neuroradiology. 2021;63(7):983\u201399.","journal-title":"Neuroradiology"},{"issue":"2","key":"2019_CR14","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1007\/s13760-015-0523-z","volume":"116","author":"C Smetcoren","year":"2016","unstructured":"Smetcoren C, Weckhuysen D. SCA 8 mimicking MSA-C. Acta Neurol Belg. 2016;116(2):221\u20132.","journal-title":"Acta Neurol Belg"},{"issue":"1","key":"2019_CR15","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.clineuro.2007.08.014","volume":"110","author":"N Kumar","year":"2008","unstructured":"Kumar N, Miller GM. White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8. Clin Neurol Neurosurg. 2008;110(1):65\u20138.","journal-title":"Clin Neurol Neurosurg"},{"issue":"4","key":"2019_CR16","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/7710","volume":"21","author":"MD Koob","year":"1999","unstructured":"Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 1999;21(4):379\u201384.","journal-title":"Nat Genet"},{"issue":"3","key":"2019_CR17","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1038\/73408","volume":"24","author":"G Stevanin","year":"2000","unstructured":"Stevanin G, Herman A, D\u00fcrr A, Jodice C, Frontali M, Agid Y, et al. Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nat Genet. 2000;24(3):213. author reply 5.","journal-title":"Nat Genet"},{"issue":"3","key":"2019_CR18","doi-asserted-by":"publisher","first-page":"199","DOI":"10.17712\/nsj.2023.3.20230032","volume":"28","author":"L Jiang","year":"2023","unstructured":"Jiang L, Zhu W, Zhao G, Cao L. Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy. Neurosciences (Riyadh). 2023;28(3):199\u2013203.","journal-title":"Neurosciences (Riyadh)"},{"issue":"1","key":"2019_CR19","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1007\/s12311-021-01285-0","volume":"21","author":"A Nigri","year":"2022","unstructured":"Nigri A, Sarro L, Mongelli A, Castaldo A, Porcu L, Pinardi C, et al. Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers. Cerebellum. 2022;21(1):133\u201344.","journal-title":"Cerebellum"},{"issue":"3","key":"2019_CR20","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1111\/ane.13359","volume":"143","author":"A Stezin","year":"2021","unstructured":"Stezin A, Bhardwaj S, Khokhar S, Hegde S, Jain S, Bharath RD, et al. In vivo microstructural white matter changes in early spinocerebellar ataxia 2. Acta Neurol Scand. 2021;143(3):326\u201332.","journal-title":"Acta Neurol Scand"},{"issue":"4","key":"2019_CR21","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1007\/s12311-020-01137-3","volume":"19","author":"WO Arruda","year":"2020","unstructured":"Arruda WO, Meira AT, Ono SE, de Carvalho Neto A, Betting L, Raskin S, et al. Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients. Cerebellum. 2020;19(4):536\u201343.","journal-title":"Cerebellum"},{"key":"2019_CR22","doi-asserted-by":"publisher","first-page":"117040","DOI":"10.1016\/j.jns.2020.117040","volume":"416","author":"A Sugiyama","year":"2020","unstructured":"Sugiyama A, Sato N, Kimura Y, Fujii H, Shigemoto Y, Suzuki F, et al. The cerebellar white matter lesions in dentatorubral-pallidoluysian atrophy. J Neurol Sci. 2020;416:117040.","journal-title":"J Neurol Sci"},{"issue":"9","key":"2019_CR23","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1016\/j.parkreldis.2009.06.001","volume":"15","author":"A Gupta","year":"2009","unstructured":"Gupta A, Jankovic J. Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis. Parkinsonism Relat Disord. 2009;15(9):621\u20136.","journal-title":"Parkinsonism Relat Disord"},{"issue":"5","key":"2019_CR24","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1212\/WNL.55.5.649","volume":"55","author":"JW Day","year":"2000","unstructured":"Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LP. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology. 2000;55(5):649\u201357.","journal-title":"Neurology"},{"issue":"6","key":"2019_CR25","doi-asserted-by":"publisher","first-page":"e200208","DOI":"10.1212\/NXG.0000000000200208","volume":"10","author":"P Mitrotti","year":"2024","unstructured":"Mitrotti P, Vegezzi E, Zangaglia R, Palmieri I, Dicaire MJ, Gana S, et al. Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia. Neurol Genet. 2024;10(6):e200208.","journal-title":"Neurol Genet"},{"issue":"6","key":"2019_CR26","doi-asserted-by":"publisher","first-page":"fcad279","DOI":"10.1093\/braincomms\/fcad279","volume":"5","author":"O Parent","year":"2023","unstructured":"Parent O, Bussy A, Devenyi GA, Dai A, Costantino M, Tullo S, et al. Assessment of white matter hyperintensity severity using multimodal magnetic resonance imaging. Brain Commun. 2023;5(6):fcad279.","journal-title":"Brain Commun"},{"key":"2019_CR27","doi-asserted-by":"publisher","first-page":"105921","DOI":"10.1016\/j.jmbbm.2023.105921","volume":"143","author":"VL Visser","year":"2023","unstructured":"Visser VL, Cacoilo A, Rusinek H, Weickenmeier J. Mechanical loading of the ventricular wall as a spatial indicator for periventricular white matter degeneration. J Mech Behav Biomed Mater. 2023;143:105921.","journal-title":"J Mech Behav Biomed Mater"},{"key":"2019_CR28","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.neuroscience.2024.12.055","volume":"567","author":"J Tang","year":"2025","unstructured":"Tang J, Xing W, Wang D, Qin Y, Li J, Zhang Y, et al. White matter functional and structural alterations of spinocerebellar ataxia type 3: A longitudinal MRI study. Neuroscience. 2025;567:77\u201385.","journal-title":"Neuroscience"},{"key":"2019_CR29","doi-asserted-by":"crossref","unstructured":"Ayhan F, Perez BA, Shorrock HK, Zu T, Banez-Coronel M, Reid T, Furuya H, Clark HB, Troncoso JC, Ross CA et al. SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F. Embo j : 2018, 37(19).","DOI":"10.15252\/embj.201899023"},{"key":"2019_CR30","unstructured":"Lallemant L, Braz S, Gonz\u00e1lez-Barriga A, Magneron P, Cordier A, Huguet-Lachon A, Schmitt A, Langui D, Auboeuf D, Martinat C et al. Toxic CUG RNA repeats disrupt developmentally-regulated splicing in oligodendrocytes causing transient hypomyelination in a mouse model of myotonic dystrophy. In: The European Meeting on Glial Cells in Health and Disease: 2023-07-08; Berlin, France. 2023."},{"issue":"2","key":"2019_CR31","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1007\/s00062-013-0267-1","volume":"24","author":"S Weidauer","year":"2014","unstructured":"Weidauer S, Nichtweiss M, Hattingen E. Differential diagnosis of white matter lesions: Nonvascular causes-Part II. Clin Neuroradiol. 2014;24(2):93\u2013110.","journal-title":"Clin Neuroradiol"},{"issue":"4","key":"2019_CR32","first-page":"467","volume":"67","author":"Y Nakata","year":"2015","unstructured":"Nakata Y. [Cerebral white matter lesions: differential diagnosis on magnetic resonance imaging]. Brain nerve = Shinkei kenkyu no shinpo. 2015;67(4):467\u201374.","journal-title":"Brain nerve = Shinkei kenkyu no shinpo"},{"key":"2019_CR33","doi-asserted-by":"crossref","unstructured":"Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Adult Leukodystrophies: A Step-by-Step Diagnostic Approach. Radiographics. 2019 Jan-Feb;39(1):153\u2009\u2013\u200968.","DOI":"10.1148\/rg.2019180081"},{"issue":"8","key":"2019_CR34","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1016\/S1474-4422(13)70124-8","volume":"12","author":"JM Wardlaw","year":"2013","unstructured":"Wardlaw JM, Smith EE, Biessels GJ, Cordonnier C, Fazekas F, Frayne R, Lindley RI, O\u2019Brien JT, Barkhof F, Benavente OR, et al. Neuroimaging standards for research into small vessel disease and its contribution to ageing and neurodegeneration. Lancet Neurol. 2013;12(8):822\u201338.","journal-title":"Lancet Neurol"},{"key":"2019_CR35","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1196\/annals.1444.017","volume":"1142","author":"JD Schmahmann","year":"2008","unstructured":"Schmahmann JD, Smith EE, Eichler FS, Filley CM. Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates. Ann N Y Acad Sci. 2008;1142:266\u2013309.","journal-title":"Ann N Y Acad Sci"},{"key":"2019_CR36","doi-asserted-by":"crossref","unstructured":"Dong X, Liu B, Huang W, Chen H, Zhang Y, Yao Z et al. Disrupted cerebellar structural connectome in spinocerebellar ataxia type 3 and its association with transcriptional profiles. Cereb Cortex. 2024;34(6).","DOI":"10.1093\/cercor\/bhae238"},{"issue":"2","key":"2019_CR37","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1002\/acn3.51713","volume":"10","author":"XY Chen","year":"2023","unstructured":"Chen XY, Huang ZQ, Lin W, Li MC, Ye ZX, Qiu YS, et al. Altered brain white matter structural motor network in spinocerebellar ataxia type 3. Ann Clin Transl Neurol. 2023;10(2):225\u201336.","journal-title":"Ann Clin Transl Neurol"},{"issue":"4","key":"2019_CR38","doi-asserted-by":"publisher","first-page":"1521","DOI":"10.1007\/s12311-024-01659-0","volume":"23","author":"M Ferreira","year":"2024","unstructured":"Ferreira M, Schaprian T, Kugler D, Reuter M, Deike-Hoffmann K, Timmann D, et al. Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration. Cerebellum (Lond England). 2024;23(4):1521\u20139.","journal-title":"Cerebellum (Lond England)"},{"issue":"5","key":"2019_CR39","doi-asserted-by":"publisher","first-page":"3606","DOI":"10.21037\/qims-23-1856","volume":"14","author":"J Li","year":"2024","unstructured":"Li J, Tian Y, Shi Y, Cui Y, Lian J, Liu P. Association of vulnerable plaques with white matter hyperintensities on high-resolution magnetic resonance imaging. Quant Imaging Med Surg. 2024;14(5):3606\u201318.","journal-title":"Quant Imaging Med Surg"},{"issue":"1","key":"2019_CR40","doi-asserted-by":"publisher","first-page":"4505","DOI":"10.1038\/s41467-022-32219-x","volume":"13","author":"CM Francis","year":"2022","unstructured":"Francis CM, Futschik ME, Huang J, Bai W, Sargurupremraj M, Teumer A, et al. Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities. Nat Commun. 2022;13(1):4505.","journal-title":"Nat Commun"},{"issue":"9","key":"2019_CR41","doi-asserted-by":"publisher","first-page":"107273","DOI":"10.1016\/j.jstrokecerebrovasdis.2023.107273","volume":"32","author":"J Zebarth","year":"2023","unstructured":"Zebarth J, Kamal R, Perlman G, Ouk M, Xiong LY, Yu D, et al. Perivascular spaces mediate a relationship between diabetes and other cerebral small vessel disease markers in cerebrovascular and neurodegenerative diseases. J stroke Cerebrovasc diseases: official J Natl Stroke Association. 2023;32(9):107273.","journal-title":"J stroke Cerebrovasc diseases: official J Natl Stroke Association"},{"issue":"9","key":"2019_CR42","doi-asserted-by":"publisher","first-page":"4466","DOI":"10.1007\/s00415-023-11792-1","volume":"270","author":"J Zhao","year":"2023","unstructured":"Zhao J, Zeng W, Huang X, Hu M, Yuan K, Wu C, et al. Analysis and hierarchical clustering of infratentorial morphological MRI identifies SCAs phenogroups. J Neurol. 2023;270(9):4466\u201377.","journal-title":"J Neurol"},{"issue":"8","key":"2019_CR43","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1016\/j.cortex.2008.04.004","volume":"44","author":"JD Schmahmann","year":"2008","unstructured":"Schmahmann JD, Pandya DN. Disconnection syndromes of basal ganglia, thalamus, and cerebrocerebellar systems. Cortex. 2008;44(8):1037\u201366.","journal-title":"Cortex"},{"key":"2019_CR44","doi-asserted-by":"publisher","first-page":"115413","DOI":"10.1016\/j.expneurol.2025.115413","volume":"393","author":"C Henriques","year":"2025","unstructured":"Henriques C, Silva M, Silva A, Rufino-Ramos D, Lopes MM, Badin RA, Hantraye P, Pereira de Almeida L, Nobre RJ. Differential impact of mutant Ataxin-3 in hindbrain regions: further evidence of white matter loss as a core pathological feature. Exp Neurol. 2025;393:115413.","journal-title":"Exp Neurol"},{"issue":"12","key":"2019_CR45","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1080\/01616412.2022.2112378","volume":"44","author":"O Sinani","year":"2022","unstructured":"Sinani O, Dadouli K, Ntellas P, Kapsalaki EZ, Vlychou M, Raptis DG, et al. Association between white matter lesions and Parkinson\u2019s disease: an impact on Postural\/Gait difficulty phenotype and cognitive performance. Neurol Res. 2022;44(12):1122\u201331.","journal-title":"Neurol Res"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-026-02019-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-026-02019-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-026-02019-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:02:17Z","timestamp":1780466537000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-026-02019-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,9]]},"references-count":45,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["2019"],"URL":"https:\/\/doi.org\/10.1007\/s12311-026-02019-w","relation":{},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,9]]},"assertion":[{"value":"9 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 April 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 May 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consent was obtained from all participants for inclusion in the study and for publication of the case details, accompanying brain MRI images and Genotyping results.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate and publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The authors declare no conflicts of interest.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"76"}}