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Spinocerebellar Ataxia Type 17 (SCA17)

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Polyglutamine Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1049))

Abstract

In 1999, a polyglutamine expansion was identified in the transcription factor TATA-binding protein (TBP) in a patient with ataxia with negative family history. Subsequently, CAG/CAA repeat expansions in the TBP gene were identified in families with spinocerebellar ataxia (SCA), establishing this repeat expansion as the underlying mutation in SCA type 17 (SCA17). There are several characteristic differences between SCA17 and other polyglutamine diseases. First, SCA17 shows a complex and variable clinical phenotype, in some cases overlapping that of Huntington’s disease. Second, compared to the other SCA subtypes caused by expanded trinucleotide repeats, anticipation in SCA17 kindreds is rare because of the characteristic structure of the TBP gene. And thirdly, SCA17 patients often have diagnostic problems that may arise from non-penetrance. Because the gap between normal and abnormal repeat numbers is very narrow, it is difficult to determine a cutoff value for pathologic CAG repeat number in SCA17. Herein, we review the clinical, genetic and pathologic features of SCA17.

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  1. Department of Pathology, Brain Research Institute, University of Niigata, 1-757 Asahimachi-dori, Chuo-ku, Niigata, Japan

    Yasuko Toyoshima & Hitoshi Takahashi

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  1. Yasuko Toyoshima
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  2. Hitoshi Takahashi
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  1. Department of Biomedical Sciences and Medicine; Centre for Biomedical Research and Algarve Biomedical Center, University of Algarve, Faro, Portugal

    Clévio Nóbrega

  2. Center for Neuroscience and Cell Biology and Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal

    Luís Pereira de Almeida

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Toyoshima, Y., Takahashi, H. (2018). Spinocerebellar Ataxia Type 17 (SCA17). In: Nóbrega, C., Pereira de Almeida, L. (eds) Polyglutamine Disorders. Advances in Experimental Medicine and Biology, vol 1049. Springer, Cham. https://doi.org/10.1007/978-3-319-71779-1_10

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