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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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Bibliographic Details
Main Authors: Nolte, Dagmar (Author) , Sobanski, E. (Author) , Wißen, A. (Author) , Regula, Jens Ulrich (Author) , Lichy, Christoph (Author) , Müller, U. (Author)
Format: Article (Journal)
Language:English
Published: 28 June 2010
In: Journal of neurology, neurosurgery, and psychiatry
Year: 2010, Volume: 81, Issue: 12, Pages: 1396-1399
ISSN:1468-330X
DOI:10.1136/jnnp.2009.180711
Online Access: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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Author Notes:D. Nolte, E. Sobanski, A. Wißen, J.U. Regula, C. Lichy, U. Müller
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Summary: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.
Item Description:Gesehen am 22.05.2023
Physical Description:Online Resource
ISSN:1468-330X
DOI:10.1136/jnnp.2009.180711

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