SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein - PubMed

Affiliations

• PMID: 11448935
• DOI: 10.1093/hmg/10.14.1441

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

K Nakamura et al. Hum Mol Genet. 2001.

Abstract

Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor. Consequently, it has been added to the group of polyglutamine diseases. This abnormal expansion of glutamine tracts in TBP bears 47--55 repeats, whereas the normal repeat number ranges from 29 to 42. Immunocytochemical examination of a postmortem brain which carried 48 CAG repeats detected neuronal intranuclear inclusion bodies that stained with anti-ubiquitin antibody, anti-TBP antibody and with the 1C2 antibody that recognizes specifically expanded pathological polyglutamine tracts. We therefore propose that this new disease be called SCA17 (TBP disease).

Similar articles

• [SCA17, a novel polyglutamine disease caused by the expansion of polyglutamine tracts in TATA-binding protein].

  Nakamura K. Nakamura K. Rinsho Shinkeigaku. 2001 Dec;41(12):1123-5. Rinsho Shinkeigaku. 2001. PMID: 12235815 Review. Japanese.

• CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

  Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Dürr A, Brice A. Fujigasaki H, et al. Brain. 2001 Oct;124(Pt 10):1939-47. doi: 10.1093/brain/124.10.1939. Brain. 2001. PMID: 11571212

• Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

  Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H. Oda M, et al. Arch Neurol. 2004 Feb;61(2):209-12. doi: 10.1001/archneur.61.2.209. Arch Neurol. 2004. PMID: 14967767

• Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

  Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O. Rolfs A, et al. Ann Neurol. 2003 Sep;54(3):367-75. doi: 10.1002/ana.10676. Ann Neurol. 2003. PMID: 12953269

• Spinocerebellar Ataxia Type 17 (SCA17).

  Toyoshima Y, Takahashi H. Toyoshima Y, et al. Adv Exp Med Biol. 2018;1049:219-231. doi: 10.1007/978-3-319-71779-1_10. Adv Exp Med Biol. 2018. PMID: 29427105 Review.

Cited by

• Computational neurobiology is a useful tool in translational neurology: the example of ataxia.

  Brown SA, McCullough LD, Loew LM. Brown SA, et al. Front Neurosci. 2015 Jan 21;9:1. doi: 10.3389/fnins.2015.00001. eCollection 2015. Front Neurosci. 2015. PMID: 25653585 Free PMC article.

• Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17).

  Reetz K, Dogan I, Rolfs A, Binkofski F, Schulz JB, Laird AR, Fox PT, Eickhoff SB. Reetz K, et al. Neuroimage. 2012 Sep;62(3):1354-66. doi: 10.1016/j.neuroimage.2012.05.058. Epub 2012 May 30. Neuroimage. 2012. PMID: 22659444 Free PMC article.

• Research advances in huntingtin-associated protein 1 and its application prospects in diseases.

  Wu Y, Wang Y, Lu Y, Yan J, Zhao H, Yang R, Pan J. Wu Y, et al. Front Neurosci. 2024 Jun 21;18:1402996. doi: 10.3389/fnins.2024.1402996. eCollection 2024. Front Neurosci. 2024. PMID: 38975245 Free PMC article. Review.

• A pathogenetic classification of hereditary ataxias: is the time ripe?

  De Michele G, Coppola G, Cocozza S, Filla A. De Michele G, et al. J Neurol. 2004 Aug;251(8):913-22. doi: 10.1007/s00415-004-0484-2. J Neurol. 2004. PMID: 15316795 Review.

• Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.

  Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K. Hirano R, et al. Neurogenetics. 2004 Dec;5(4):215-21. doi: 10.1007/s10048-004-0194-z. Epub 2004 Sep 29. Neurogenetics. 2004. PMID: 15455264

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Ovid Technologies, Inc.
  • Silverchair Information Systems

• Other Literature Sources

  • The Lens - Patent Citations Database

• Molecular Biology Databases

  • BioCyc
  • GlyGen glycoinformatics resource
  • Saccharomyces Genome Database