Journal article

Authors list: Nolte, D.; Sobanski, E.; Wissen, A.; Regula, J. U.; Lichy, C.; Mueller, U.

Publication year: 2010

Pages: 1396-1399

Journal: Journal of Neurology, Neurosurgery and Psychiatry

Volume number: 81

Issue number: 12

ISSN: 0022-3050

eISSN: 1468-330X

DOI Link: https://doi.org/10.1136/jnnp.2009.180711

Publisher: BMJ Publishing Group

Abstract: 

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.

Harvard Citation style: Nolte, D., Sobanski, E., Wissen, A., Regula, J., Lichy, C. and Mueller, U. (2010) Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene, Journal of Neurology, Neurosurgery and Psychiatry, 81(12), pp. 1396-1399. https://doi.org/10.1136/jnnp.2009.180711

APA Citation style: Nolte, D., Sobanski, E., Wissen, A., Regula, J., Lichy, C., & Mueller, U. (2010). Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. Journal of Neurology, Neurosurgery and Psychiatry. 81(12), 1396-1399. https://doi.org/10.1136/jnnp.2009.180711