Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report
Author:
Funder
Ministero dell’Istruzione, dell’Università e della Ricerca
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10072-024-07453-4.pdf
Reference17 articles.
1. Toyoshima Y, Takahashi H (2018) Spinocerebellar ataxia type 17 (SCA17). Adv Exp Med Biol 1049:219–231. https://doi.org/10.1007/978-3-319-71779-1_10
2. Paoletti FP, Prontera P, Nigro P et al (2021) Smalle-xpanded allele spinocerebellar ataxia 17: imaging and phenotypic variability. Neurol Sci 42:4309–4315. https://doi.org/10.1007/s10072-021-05313-z
3. Magri S, Nanetti L, Gellera C et al (2022) Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genet Med 24(1):29–40. https://doi.org/10.1016/j.gim.2021.08.003
4. Barbier M, Davoine C-S, Petit E et al (2023) Intermediate repeat expansions of TBP and STUB1: genetic modifier or pure digenic inheritance in spinocerebellar ataxias? Genet Med 25(2):100327. https://doi.org/10.1016/j.gim.2022.10.009
5. Lorenzo Nanetti L, Magri S, Fichera M et al (2023) Complex ataxia-dementia phenotype in patients with digenic TBP/STUB1 spinocerebellar ataxia. Mov Disord 38(4):665–675. https://doi.org/10.1002/mds.29352
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1. Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG‑PET presentation in spinocerebellar ataxia 17: a case report;Neurological Sciences;2024-03-28
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