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Trinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: A Thai multicenter study.
- Source :
-
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2016 Jul; Vol. 28, pp. 146-9. Date of Electronic Publication: 2016 May 04. - Publication Year :
- 2016
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Abstract
- Introduction: Spinocerebellar ataxia type 17 (SCA17) is an inherited cerebellar degeneration associated with trinucleotide repeat expansions in the TATA-binding protein gene (TBP). Low-range expansions of TBP have recently been described in association with Parkinson's disease (PD). However, these low-range expansion alleles were also observed in healthy individuals. Prior distinct findings may result from reduced penetrance or age-dependent susceptibility, which may influence phenotypic expression.<br />Methods: A case-control study of 456 PD patients and 374 control subjects was conducted. Data and blood samples were collected during 2008-2013. Control subjects were individuals over 65 years old without parkinsonism. Sizes of TBP trinucleotide repeats were analyzed. All available carriers of the TBP repeat of ≥40 repeats were re-examined.<br />Results: A high prevalence of carriers of TBP repeat expansion ≥41 developed PD, mainly at an advanced age. Half of these carriers had onset after 70 years of age (range 34-84). Seven participants carried expansion alleles of ≥42, and all had PD. Fourteen participants (six patients and eight controls) carried a heterozygous 41-repeat allele. At the current mean age of 79 years and mean follow-up period of 4 years, three out of the eight control carriers of the 41-repeat allele developed PD, while none of the thirteen asymptomatic carriers of the 40-repeat allele did.<br />Conclusions: A high prevalence of PD was observed in carriers of low-range expansions of TBP (41-45 repeats), especially in elderly. This finding suggests that cut-off value for pathological TBP repeat expansion appear to be 41.<br /> (Copyright © 2016 Elsevier Ltd. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1873-5126
- Volume :
- 28
- Database :
- MEDLINE
- Journal :
- Parkinsonism & related disorders
- Publication Type :
- Academic Journal
- Accession number :
- 27172828
- Full Text :
- https://doi.org/10.1016/j.parkreldis.2016.05.008