ArticleCerebellum & ataxias2015
Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.
Article in Cerebellum & ataxias, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.Frontiers in neurology · 2025Article
- Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.Cerebellum (London, England) · 2020Review
- Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.Cerebellum (London, England) · 2020Article
- The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.Movement disorders clinical practice · 2019Review
- Spinocerebellar ataxia: an update.Journal of neurology · 2019Review
- Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.Journal of human genetics · 2016Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the ATXN3 gene. It is the most common autosomal dominant ataxia in the world, but its frequency prevalence in Cuba remains uncertain. We undertook a national study in order to characterize the ATXN3 gene and to determine the prevalence of SCA3/MJD in Cuba.
resultsTwenty-two individuals belonging to 8 non-related families were identified as carriers of an expanded ATXN3 allele. The affected families come from the central and western region of the country. Ataxia of gait was the initial symptom in all of the cases. The normal alleles ranged between 14 and 33 CAG repeats while the expanded ones ranged from 63 to 77 repeats. The mean age at onset was 40 ± 9 years and significantly correlated with the number of CAG repeats in the expanded alleles.
conclusionsThis disorder was identified as the second most common form of spinocerebellar ataxia (SCA) in Cuba based on molecular testing, and showing a different geographical distribution from that of SCA2. This research constitutes the first clinical and molecular characterization of Cuban SCA3 families, opening the way for the implementation of predictive diagnosis for at risk family members.
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