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Multicenter Study
. 2016 Jul:28:146-9.
doi: 10.1016/j.parkreldis.2016.05.008. Epub 2016 May 4.

Trinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: A Thai multicenter study

Lulin Choubtum  1 , Pirada Witoonpanich  2 , Kongkiat Kulkantrakorn  3 , Suchat Hanchaiphiboolkul  4 , Sunsanee Pongpakdee  5 , Somsak Tiamkao  6 , Teeratorn Pulkes  7
Affiliations
Multicenter Study

Trinucleotide repeat expansion of TATA-binding protein gene associated with Parkinson's disease: A Thai multicenter study

Lulin Choubtum et al. Parkinsonism Relat Disord. 2016 Jul.

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.

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.

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.

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.

Keywords: Parkinson's disease; Spinocerebellar ataxia type 17; TATA box-binding protein gene; TBP; Trinucleotide repeat expansion.

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