| Chapter title |
Spinocerebellar Ataxia Type 17 (SCA17)
|
|---|---|
| Chapter number | 10 |
| Book title |
Polyglutamine Disorders
|
| Published in |
Advances in experimental medicine and biology, January 2018
|
| DOI | 10.1007/978-3-319-71779-1_10 |
| Pubmed ID | |
| Book ISBNs |
978-3-31-971778-4, 978-3-31-971779-1
|
| Authors |
Yasuko Toyoshima, Hitoshi Takahashi |
| 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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| Researcher | 4 | 13% |
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| Lecturer | 2 | 6% |
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