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Case Report

Dilemma in differentiation of spinocerebellar ataxia type 17 from Huntington’s disease: comorbidity or independent disease?

Li AnDepartment of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, ChinaView further author information
,
Sheng YaoDepartment of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, ChinaView further author information
,
Jianguo LiuDepartment of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, ChinaView further author information
,
Xiaokun QiDepartment of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, ChinaView further author information
,
Feng DuanDepartment of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, ChinaView further author information
&
Chenjing SunDepartment of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-6162-383XView further author information
ORCID Icon
Received 23 May 2022, Accepted 17 Oct 2023, Published online: 31 Oct 2023

References

  • Dong X, Cong S. The emerging roles of long non-coding RNAs in polyglutamine diseases. J Cell Mol Med. 2021;25(17):8095–8102. doi:10.1111/jcmm.16808.
  • Tang B, Zeng S. Pay attention to repeat expansion mutation related neurogenetic diseases. Chin J Neurol. 2020;53(3):161–165.
  • Nethisinghe S, Lim WN, Ging H, et al. Complexity of the genetics and clinical presentation of spinocerebellar ataxia 17. Front Cell Neurosci. 2018;12:429. doi:10.3389/fncel.2018.00429.
  • Reguera Acuña A, Suárez San Martín E, García Fernández C, et al. A series of cases with huntington-like phenotype and intermediate repeats in HTT. J Neurol Sci. 2021;425:117452. doi:10.1016/j.jns.2021.117452.
  • Toyoshima Y, Takahashi H. Spinocerebellar ataxia type 17 (SCA17). Adv Exp Med Biol. 2018;1049:219–231. doi:10.1007/978-3-319-71779-1_10.
  • Maltecca F, Filla A, Castaldo I, et al. Intergenerational instability and marked anticipation in SCA-17. Neurology. 2003;61(10):1441–1443. doi:10.1212/01.wnl.0000094123.09098.a0.
  • Wang J, Wu Y, Lei L. P0lynucleOtide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral palIjd0luysian atrophy in healthy chinese han population. Chin J Med Gene. 2010;27:501–505.
  • Nanda A, Jackson SA, Schwankhaus JD, et al. Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. Mov Disord. 2007;22(3):436–436. doi:10.1002/mds.21275.
  • Alibardi A, Squitieri F, Fattapposta F, et al. Psychiatric onset and late chorea in a patient with 41 CAG repeats in the TATA-binding protein gene. Parkinsonism Relat Disord. 2014;20(6):678–679. doi:10.1016/j.parkreldis.2014.03.007.
  • Park H, Jeon BS, Shin JH, et al. A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea. Parkinsonism Relat Disord. 2016;22:106–107. doi:10.1016/j.parkreldis.2015.11.011.
  • Oda M, Maruyama H, Komure O, et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol. 2004;61(2):209–212. doi:10.1001/archneur.61.2.209.
  • Zühlke C, Dalski A, Schwinger E, et al. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet. 2005;6(1):27. doi:10.1186/1471-2350-6-27.
  • Lee S-U, Kim J-S, Yoo D, et al. Ocular motor findings aid in differentiation of spinocerebellar ataxia type 17 from huntington’s disease. Cerebellum. 2023;22(1):1–13. doi:10.1007/s12311-021-01356-2.
  • Magri S, Nanetti L, Gellera C, et al. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genet Med. 2022;24(1):29–40. doi:10.1016/j.gim.2021.08.003.
  • Reis MC, Patrun J, Ackl N, et al. A severe dementia syndrome caused by intron retention and cryptic splice site activation in STUB1 and exacerbated by TBP repeat expansions. Front Mol Neurosci. 2022;15:878236. doi:10.3389/fnmol.2022.878236.

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