ArticleParkinsonism & related disorders2020
The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.
Article in Parkinsonism & related disorders, 2020. 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, 25 citations in OpenAlex.
- Unstable FGF14 GAA repeat expansions in Indian ataxia patients: a broader phenotype and involvement of modifier loci?Journal of human genetics · 2025Article
- Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA).Cerebellum (London, England) · 2025Review
- A comprehensive review of iPS cell line-based disease modelling of the polyglutamine spinocerebellar ataxias 2 and 3: a focus on the research outcomes.Annals of medicine and surgery (2012) · 2024Review
- Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias.Current neurology and neuroscience reports · 2024Review
- Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China.Molecular biology reports · 2024Article
- Tremor in Spinocerebellar Ataxia: A Scoping Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Mechanisms underlying phenotypic variation in neurogenetic disorders.Nature reviews. Neurology · 2023Review
- Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage.European radiology · 2023Article
- Ataxias: Hereditary, Acquired, and Reversible Etiologies.Seminars in neurology · 2023Article
- The association between educational attainment and SCA 3 age of onset and disease course.Parkinsonism & related disorders · 2022Article
- The Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study.Frontiers in aging neuroscience · 2022Article
- Spinocerebellar ataxia clinical trials: opportunities and challenges.Annals of clinical and translational neurology · 2021Review
- Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.Movement disorders clinical practice · 2021Review
- Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration.Cerebellum (London, England) · 2020Review
- Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA.Frontiers in neurology · 2020Review
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Authors and funding
20 authors at 17 institutions in 2 countries.
Funding
Abstract
backgroundFor a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity does affect the disease phenotypes. However, how ethnicity contributes to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less studied.
methodsWe used multivariable linear and logistical regression models in 257 molecularly-confirmed SCA3 patients (66 Caucasians, 43 African Americans, and 148 Asians [composed of 131 Chinese and 17 Asian Americans]) to explore the influence of ethnicity on age at onset (AAO), ataxia severity, and non-ataxia symptoms (i.e. depression, tremor, and dystonia).
resultsWe found that Asians had significantly later AAO, compared to Caucasians (β = 4.75, p = 0.000) and to African Americans (β = 6.64, p = 0.000) after adjusting for the pathological CAG repeat numbers in ATXN3. African Americans exhibited the most severe ataxia as compared to Caucasians (β = 3.81, p = 0.004) and Asians (β = 4.39, p = 0.001) after taking into consideration of the pathological CAG repeat numbers in ATXN3 and disease duration. Caucasians had a higher prevalence of depression than African Americans (β = 1.23, p = 0.040). Ethnicity had no influence on tremor or dystonia.
conclusionsEthnicity plays an important role in clinical presentations of SCA3 patients, which could merit further clinical studies and public health consideration. These results highlight the role of ethnicity in monogenetic, neurodegenerative disorders.
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