Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene
Background Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). The currently accepted critical threshold of abnormal expansions is ≥43. - Objective To investigate the minimal CAG/CAA expansion within the TB...
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| Hauptverfasser: | , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
28 June 2010
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| In: |
Journal of neurology, neurosurgery, and psychiatry
Year: 2010, Jahrgang: 81, Heft: 12, Pages: 1396-1399 |
| ISSN: | 1468-330X |
| DOI: | 10.1136/jnnp.2009.180711 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/jnnp.2009.180711 Verlag, lizenzpflichtig, Volltext: https://jnnp.bmj.com/content/81/12/1396 
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| Verfasserangaben: | D. Nolte, E. Sobanski, A. Wißen, J.U. Regula, C. Lichy, U. Müller |
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| 245 | 1 | 0 | |a Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene |c D. Nolte, E. Sobanski, A. Wißen, J.U. Regula, C. Lichy, U. Müller |
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| 520 | |a Background Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). The currently accepted critical threshold of abnormal expansions is ≥43. - Objective To investigate the minimal CAG/CAA expansion within the TBP in SCA17. - Results 285 patients with autosomal-dominant ataxia were examined, and abnormal or borderline expansions of CAG/CAA within TBP in eight cases were found. Of those, four patients from three families had exactly 42 CAG/CAA trinucleotides, that is, one codon less than the currently accepted critical threshold of 43. The four patients presented with a relatively benign phenotype. All had dysdiadochokinesia and dysarthria. Mild gait ataxia was observed in three of the four patients. - Conclusion The reference definition of at least 43 CAG/CAA codons for pathological SCA17 alleles should be lowered to 42. | ||
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| 650 | 4 | |a Spinocerebellar ataxia type 17 | |
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