ArticlePloS one2015
Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 38 citations in OpenAlex.
- The association between diplopia and clinical phenotypes in spinocerebellar ataxia type 3.BMC neurology · 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
- Feasibility of repetitive transcranial magnetic stimulation on non-motor symptoms of spinocerebellar ataxia type 3: a secondary analysis of a randomized clinical trial.Frontiers in neurology · 2025Article
- Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.Journal of neurology · 2024Article
- In Vitro Efficacy and Molecular Mechanism of Curcumin Analog in Pathological Regulation of Spinocerebellar Ataxia Type 3.Antioxidants (Basel, Switzerland) · 2022Article
- Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.Advanced genetics (Hoboken, N.J.) · 2022Article
- Homozygous spinocerebellar ataxia type 3 in China: a case report.The Journal of international medical research · 2021Article
- 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
- The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.Parkinsonism & related disorders · 2020Article
- Ataxic Severity Is Positively Correlated With Fatigue in Spinocerebellar Ataxia Type 3 Patients.Frontiers in neurology · 2020Article
- The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3.Molecular genetics & genomic medicine · 2019Article
- A reference haplotype panel for genome-wide imputation of short tandem repeats.Nature communications · 2018Article
- Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients.Cerebellum (London, England) · 2018Article
- Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).Molecular diagnosis & therapy · 2016Article
- Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy.Neurology. Genetics · 2016Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxia type 3 (SCA3), also called Machado-Joseph disease (MJD), is one of the most common SCAs worldwide and caused by a CAG repeat expansion located in ATXN3 gene. Based on the CAG repeat numbers, alleles of ATXN3 can be divided into normal alleles (ANs), intermediate alleles (AIs) and expanded alleles (AEs). It was controversial whether the frequency of large normal alleles (large ANs) is related to the prevalence of SCA3 or not. And there were huge chaos in the comprehension of the specific numbers of the range of CAG repeats which is fundamental for genetic analysis of SCA3. To illustrate these issues, we made a novel CAG repeat ladder to detect CAG repeats of ATXN3 in 1003 unrelated Chinese normal individuals and studied haplotypes defined by three single nucleotide polymorphisms (SNPs) closed to ATXN3. We found that the number of CAG repeats ranged from 13 to 49, among them, 14 was the most common number. Positive skew, the highest frequency of large ANs and 4 AIs which had never been reported before were found. Also, AEs and large ANs shared the same haplotypes defined by the SNPs. Based on these data and other related studies, we presumed that de novo mutations of ATXN3 emerging from large ANs are at least one survival mechanisms of mutational ATXN3 and we can redefine the range of CAG repeats as: ANs≤44, 45 ≤AIs ≤49 and AEs≥50.
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