ArticleBMC medical genetics2010
High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 50 citations in OpenAlex.
- Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.Translational neurodegeneration · 2026Article
- Genotypic features of Spinocerebellar Ataxia in Northern China: A Comparative Analysis with Southern China.Cerebellum (London, England) · 2026Article
- The association between diplopia and clinical phenotypes in spinocerebellar ataxia type 3.BMC neurology · 2026Article
- Relationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type 3.Orphanet journal of rare diseases · 2026Article
- Peripheral inflammation in spinocerebellar ataxia type 3: associations with genetic and clinical manifestations.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2025Article
- Dysphagia linked to clinical phenotype and disease progression in spinocerebellar ataxia type 3.European journal of medical research · 2025Article
- Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3.European journal of neurology · 2025Article
- Impaired Lower Limb Proprioception in Spinocerebellar Ataxia Type 3 and Its Affected Factors.Frontiers in neurology · 2022Article
- Article
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia.Journal of clinical neurology (Seoul, Korea) · 2021Article
- Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3.Cerebellum (London, England) · 2020Article
- Phenotypic variance in monozygotic twins with SCA3.Molecular genetics & genomic medicine · 2020Article
- Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3.Molecular genetics & genomic medicine · 2020Article
- Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients.Annals of clinical and translational neurology · 2020Article
- Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population.Cerebellum (London, England) · 2020Article
- Ataxic Severity Is Positively Correlated With Fatigue in Spinocerebellar Ataxia Type 3 Patients.Frontiers in neurology · 2020Article
- Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3.Molecular neurodegeneration · 2019Article
- The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3.Molecular genetics & genomic medicine · 2019Article
- Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.CNS neuroscience & therapeutics · 2019Article
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMachado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world. The relative frequency of MJD among SCA has previously been estimated at about 50% in the Chinese population and has been reported to be related to the frequency of large normal alleles in some populations. Taq polymerase has been used for PCR in nearly all studies reported previously.
methodsNormal and expanded alleles of ATXN3 were detected via PCR using LA Taq DNA polymerase (better for GC-rich sequences) and denaturing polyacrylamide gel electrophoresis in 150 normal individuals and 138 unrelated probands from autosomal dominant SCA families. To compare reaction efficiency, 12 MJD patients' expanded alleles were amplified with La Taq and Taq polymerase respectively in the same amplifying systems and reaction conditions.
resultsNormal alleles ranged from 12 to 42 CAG repeats. The most common allele contained 14 repeats with a frequency of 23.3%, which corroborates previous reports. The frequency of large normal alleles (>27 repeats) was 0.28, which was very high relative to previous reports. The frequency of MJD in SCA patients was 72.5%, which was significantly higher than those in previous reports about the Chinese and other Asian populations. This frequency was one of the highest reported worldwide, with only Portuguese and Brazilian populations exhibiting higher proportions. All 12 expanded alleles were amplified in PCR with La Taq polymerase, whereas only 2 expanded alleles were amplified with Taq polymerase.
conclusionWe have first reported the highest relative frequency of MJD in Asia, and we attribute this high frequency to a more efficient PCR using LA Taq polymerase and hypothesized that large ANs may act as a reservoir for expanded alleles in the Southeastern Chinese population.
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