Genetic testing in spinocerebellar ataxia in Taiwan: Expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease

Y. R. Wu, H. Y. Lin, Chiung Mei Chen, K. Gwinn-Hardy, L. S. Ro, Y. C. Wang, S. H. Li, J. C. Hwang, K. Fang, H. M. Hsieh-Li, M. L. Li, L. C. Tung, M. T. Su, K. T. Lu, Guoy Jen Lee-Chen

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Abstract

DNA tests in normal subjects and patients with ataxia and Parkinson's disease (PD) were carried out to assess the frequency of spinocerebellar ataxia (SCA) and to document the distribution of SCA mutations underlying ethnic Chinese in Taiwan. MJD/SCA3 (46%) was the most common autosomal dominant SCA in the Taiwanese cohort, followed by SCA6 (18%) and SCA1 (3%). No expansions of SCA types 2, 10, 12, or dentatorubropallidoluysian atrophy (DRPLA) were detected. The clinical phenotypes of these affected SCA patients were very heterogeneous. All of them showed clinical symptoms of cerebellar ataxia, with or without other associated features. The frequencies of large normal alleles are closely associated with the prevalence of SCA1, SCA2, MJD/SCA3, SCA6, and DRPLA among Taiwanese, Japanese, and Caucasians. Interestingly, abnormal expansions of SCA8 and SCA17 genes were detected in patients with PD. The clinical presentation for these patients is typical of idiopathic PD with the following characteristics: late onset of disease, resting tremor in the limbs, rigidity, bradykinesia, and a good response to levodopa. This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD.

Original languageEnglish
Pages (from-to)209-214
Number of pages6
JournalClinical Genetics
Volume65
Issue number3
DOIs
Publication statusPublished - 2004 Mar 1

Fingerprint

Trinucleotide Repeat Expansion
Spinocerebellar Ataxias
Genetic Testing
Taiwan
Parkinson Disease
Atrophy
Alleles
TATA-Box Binding Protein
Phenotype
Cerebellar Ataxia
Hypokinesia
Levodopa
Tremor
Ataxia
Genes
Extremities
Mutation
DNA

Keywords

  • Genetic testing
  • Phenotypical variability
  • SCA8 and SCA17
  • Trinucleotide-repeat expansion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Genetic testing in spinocerebellar ataxia in Taiwan : Expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. / Wu, Y. R.; Lin, H. Y.; Chen, Chiung Mei; Gwinn-Hardy, K.; Ro, L. S.; Wang, Y. C.; Li, S. H.; Hwang, J. C.; Fang, K.; Hsieh-Li, H. M.; Li, M. L.; Tung, L. C.; Su, M. T.; Lu, K. T.; Lee-Chen, Guoy Jen.

In: Clinical Genetics, Vol. 65, No. 3, 01.03.2004, p. 209-214.

Research output: Contribution to journalArticle

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abstract = "DNA tests in normal subjects and patients with ataxia and Parkinson's disease (PD) were carried out to assess the frequency of spinocerebellar ataxia (SCA) and to document the distribution of SCA mutations underlying ethnic Chinese in Taiwan. MJD/SCA3 (46{\%}) was the most common autosomal dominant SCA in the Taiwanese cohort, followed by SCA6 (18{\%}) and SCA1 (3{\%}). No expansions of SCA types 2, 10, 12, or dentatorubropallidoluysian atrophy (DRPLA) were detected. The clinical phenotypes of these affected SCA patients were very heterogeneous. All of them showed clinical symptoms of cerebellar ataxia, with or without other associated features. The frequencies of large normal alleles are closely associated with the prevalence of SCA1, SCA2, MJD/SCA3, SCA6, and DRPLA among Taiwanese, Japanese, and Caucasians. Interestingly, abnormal expansions of SCA8 and SCA17 genes were detected in patients with PD. The clinical presentation for these patients is typical of idiopathic PD with the following characteristics: late onset of disease, resting tremor in the limbs, rigidity, bradykinesia, and a good response to levodopa. This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD.",
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AU - Lin, H. Y.

AU - Chen, Chiung Mei

AU - Gwinn-Hardy, K.

AU - Ro, L. S.

AU - Wang, Y. C.

AU - Li, S. H.

AU - Hwang, J. C.

AU - Fang, K.

AU - Hsieh-Li, H. M.

AU - Li, M. L.

AU - Tung, L. C.

AU - Su, M. T.

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AU - Lee-Chen, Guoy Jen

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AB - DNA tests in normal subjects and patients with ataxia and Parkinson's disease (PD) were carried out to assess the frequency of spinocerebellar ataxia (SCA) and to document the distribution of SCA mutations underlying ethnic Chinese in Taiwan. MJD/SCA3 (46%) was the most common autosomal dominant SCA in the Taiwanese cohort, followed by SCA6 (18%) and SCA1 (3%). No expansions of SCA types 2, 10, 12, or dentatorubropallidoluysian atrophy (DRPLA) were detected. The clinical phenotypes of these affected SCA patients were very heterogeneous. All of them showed clinical symptoms of cerebellar ataxia, with or without other associated features. The frequencies of large normal alleles are closely associated with the prevalence of SCA1, SCA2, MJD/SCA3, SCA6, and DRPLA among Taiwanese, Japanese, and Caucasians. Interestingly, abnormal expansions of SCA8 and SCA17 genes were detected in patients with PD. The clinical presentation for these patients is typical of idiopathic PD with the following characteristics: late onset of disease, resting tremor in the limbs, rigidity, bradykinesia, and a good response to levodopa. This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD.

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KW - Trinucleotide-repeat expansion

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