ArticleFrontiers in genetics2018
Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?
Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Machado-Joseph disease in Brazil and other South American countries: A systematic Review and Meta-analysis of Prevalence, CAG Repeat Lengths, Age At Onset, and Ancestry.Cerebellum (London, England) · 2025Pooled it
- Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment.International journal of molecular sciences · 2024Pooled it
- Genotypic features of Spinocerebellar Ataxia in Northern China: A Comparative Analysis with Southern China.Cerebellum (London, England) · 2026Article
- Aboriginal families living with MJD in remote Australia: questions of access and equity.International journal for equity in health · 2024Article
- Study insights in the role of PGC-1α in neurological diseases: mechanisms and therapeutic potential.Frontiers in aging neuroscience · 2024Review
- Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.Human genetics · 2023Article
- Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.Molecular neurodegeneration · 2023Review
- Autophagy in Spinocerebellar Ataxia Type 3: From Pathogenesis to Therapeutics.International journal of molecular sciences · 2023Review
- A model for the dynamics of expanded CAG repeat alleles:Frontiers in genetics · 2023Article
- Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3.Frontiers in neurology · 2023Article
- In Vitro Efficacy and Molecular Mechanism of Curcumin Analog in Pathological Regulation of Spinocerebellar Ataxia Type 3.Antioxidants (Basel, Switzerland) · 2022Article
- Article
- Impaired Lower Limb Proprioception in Spinocerebellar Ataxia Type 3 and Its Affected Factors.Frontiers in neurology · 2022Article
- Mutant Ataxin-3-Containing Aggregates (MATAGGs) in Spinocerebellar Ataxia Type 3: Dynamics of the Disorder.Molecular neurobiology · 2021Review
- Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.Science translational medicine · 2020Article
- Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients.Annals of clinical and translational neurology · 2020Article
- Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.Cerebellum (London, England) · 2020Review
- Identifying Therapeutic Targets for Spinocerebellar Ataxia Type 3/Machado-Joseph Disease through Integration of Pathological Biomarkers and Therapeutic Strategies.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Machado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1-5/100,000. To this date, two major ancestral lineages have been found throughout the world. In China, the relative frequency of MJD among the SCAs reaches as high as 63%, however, little is known about its mutational origin in this country. We analyzed 50 families with MJD patients in two or more generations to study the hypothesis that new mutational events have occurred in this population. Haplotypes based on 20 SNPs have shown new genetic backgrounds segregating with MJD mutations in our cohort from China. We found the "Joseph-derived" lineage (Joseph lineage with a G variant in rs56268847) to be very common among Chinese MJD patients. Moreover, we estimated the time for the origin of this MJD SNP background based on STR diversity flanking the (CAG)
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.