Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

Y. R. Wu; H. C. Fung; G. J. Lee-Chen; K. Gwinn-Hardy; L. S. Ro; S. T. Chen; H. M. Hsieh-Li; H. Y. Lin; C. Y. Lin; S. N. Li; C. M. Chen

doi:10.1007/s00702-004-0197-9

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

Y. R. Wu, H. C. Fung, G. J. Lee-Chen, K. Gwinn-Hardy, L. S. Ro, S. T. Chen, H. M. Hsieh-Li, H. Y. Lin, C. Y. Lin, S. N. Li, C. M. Chen^*

^*Corresponding author for this work

School of Medicine

Research output: Contribution to journal › Journal Article › peer-review

28 Scopus citations

Abstract

Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47 CAA/CAG repeats. We examined this gene in 30 patients with autosomal-dominant cerebellar ataxia (ADCA), 35 patients with sporadic ataxia, 11 patients with Huntington's disease (HD), 351 patients with idiopathic Parkinson's disease (PD), 105 patients with Alzheimer's disease (AD), and 291 controls with no history of neurodegenerative disease. Three patients (one with sporadic PD and two with AD) carrying more than 42 TNRs in the TBP gene were identified. This reveals that the phenotype associated with CAG/CAA expansion in the TBP gene may be heterogeneous.

Original language	English
Pages (from-to)	539-546
Number of pages	8
Journal	Journal of Neural Transmission
Volume	112
Issue number	4
DOIs	https://doi.org/10.1007/s00702-004-0197-9
State	Published - 04 2005

Keywords

Alzheimer's disease
Cag expansion
Parkinson's disease
SCA17

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s00702-004-0197-9

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title = "Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases",

abstract = "Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47 CAA/CAG repeats. We examined this gene in 30 patients with autosomal-dominant cerebellar ataxia (ADCA), 35 patients with sporadic ataxia, 11 patients with Huntington's disease (HD), 351 patients with idiopathic Parkinson's disease (PD), 105 patients with Alzheimer's disease (AD), and 291 controls with no history of neurodegenerative disease. Three patients (one with sporadic PD and two with AD) carrying more than 42 TNRs in the TBP gene were identified. This reveals that the phenotype associated with CAG/CAA expansion in the TBP gene may be heterogeneous.",

keywords = "Alzheimer's disease, Cag expansion, Parkinson's disease, SCA17",

author = "Wu, {Y. R.} and Fung, {H. C.} and Lee-Chen, {G. J.} and K. Gwinn-Hardy and Ro, {L. S.} and Chen, {S. T.} and Hsieh-Li, {H. M.} and Lin, {H. Y.} and Lin, {C. Y.} and Li, {S. N.} and Chen, {C. M.}",

year = "2005",

month = apr,

doi = "10.1007/s00702-004-0197-9",

language = "英语",

volume = "112",

pages = "539--546",

journal = "Journal of Neural Transmission",

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AU - Fung, H. C.

AU - Lee-Chen, G. J.

AU - Gwinn-Hardy, K.

AU - Ro, L. S.

AU - Chen, S. T.

AU - Hsieh-Li, H. M.

AU - Lin, H. Y.

AU - Lin, C. Y.

AU - Li, S. N.

AU - Chen, C. M.

PY - 2005/4

Y1 - 2005/4

N2 - Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47 CAA/CAG repeats. We examined this gene in 30 patients with autosomal-dominant cerebellar ataxia (ADCA), 35 patients with sporadic ataxia, 11 patients with Huntington's disease (HD), 351 patients with idiopathic Parkinson's disease (PD), 105 patients with Alzheimer's disease (AD), and 291 controls with no history of neurodegenerative disease. Three patients (one with sporadic PD and two with AD) carrying more than 42 TNRs in the TBP gene were identified. This reveals that the phenotype associated with CAG/CAA expansion in the TBP gene may be heterogeneous.

AB - Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47 CAA/CAG repeats. We examined this gene in 30 patients with autosomal-dominant cerebellar ataxia (ADCA), 35 patients with sporadic ataxia, 11 patients with Huntington's disease (HD), 351 patients with idiopathic Parkinson's disease (PD), 105 patients with Alzheimer's disease (AD), and 291 controls with no history of neurodegenerative disease. Three patients (one with sporadic PD and two with AD) carrying more than 42 TNRs in the TBP gene were identified. This reveals that the phenotype associated with CAG/CAA expansion in the TBP gene may be heterogeneous.

KW - Alzheimer's disease

KW - Cag expansion

KW - Parkinson's disease

KW - SCA17

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DO - 10.1007/s00702-004-0197-9

M3 - 文章

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AN - SCOPUS:20244380183

SN - 0300-9564

VL - 112

SP - 539

EP - 546

JO - Journal of Neural Transmission

JF - Journal of Neural Transmission

IS - 4

ER -

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

Abstract

Keywords

UN SDGs

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