ArticleMolecular genetics & genomic medicine2019
The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Spectrum of Dystonia in Spinocerebellar Ataxia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Pooled it
- Digital Balance Biomarkers and Interpretable Evaluation of Disease Severity in Spinocerebellar Ataxia Type 3.Annals of the New York Academy of Sciences · 2026Article
- The association between diplopia and clinical phenotypes in spinocerebellar ataxia type 3.BMC neurology · 2026Article
- Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias.Cell death & disease · 2025Review
- Dysphagia linked to clinical phenotype and disease progression in spinocerebellar ataxia type 3.European journal of medical research · 2025Article
- Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3.European journal of neurology · 2025Article
- Spinocerebellar ataxia type 3 with dopamine-responsive dystonia: A case report.World journal of clinical cases · 2021Article
- Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients.Annals of clinical and translational neurology · 2020Article
- The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3.Molecular genetics & genomic medicine · 2019Article
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8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinocerebellar ataxia type 3 (SCA3) is a rare, inherited form of ataxia that leads to progressive neurodegeneration. The initial symptoms could affect clinical phenotypes in neurodegenerative diseases, such as Parkinson's disease and amyotrophic lateral sclerosis. However, the contribution of initial symptoms to the phenotypes of SCA3 has been scarcely investigated.
methodsIn the present study, 143 SCA3 patients from China were recruited and divided into two groups of gait-onset and non-gait-onset. For determining the influences of initial symptoms on age at onset (AAO), the severity and progression of ataxia, and the possible factors affecting the initial symptoms, multivariable linear regression, and multivariate logistic regression were performed.
resultsWe found that the frequency of gait-onset was 87.41%, and the frequency of non-gait-onset was 12.59% (diplopia: 7.69%, dysarthria: 4.20%, dystonia: 0.70%). Compared to the non-gait-onset group, the gait-onset group had significantly more severe ataxia (p = 0.046), while the initial symptoms had no effect on AAO (p = 0.109) and progression of ataxia (p = 0.265). We failed to find the existence of any factors affecting initial symptoms.
conclusionThese findings collectively suggested that initial symptoms influenced phenotypes in SCA3 and that neurodegeneration in different parts of brain may induce different disease severity in SCA3.
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