ArticleCerebellum (London, England)2020
Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.
Article in Cerebellum (London, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers, 1 of them a synthesis 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2025Pooled it
- NovelNeurology. Genetics · 2025Article
- Spinocerebellar Ataxia Type 10 (SCA 10) in Brazil.Cerebellum (London, England) · 2025Review
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.Journal of neurology · 2025Article
- Novel Intermediate ATXN10 Alleles in the Healthy Peruvian Population: A Matter of Indigenous American Ethnic Origin.Cerebellum (London, England) · 2025Article
- ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.Cerebellum (London, England) · 2025Article
- Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.Human molecular genetics · 2024Article
- Machado Joseph-Disease Is Rare in the Peruvian Population.Cerebellum (London, England) · 2023Article
- Review
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
Abstract
Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ataxia (FRDA), among cases series of ataxic individuals from Peru. Among ataxic index cases from 104 families (38 of them with and 66 without autosomal dominant pattern of inheritance), we identified 22 SCA10, 8 SCA2, 3 SCA6, 2 SCA3, 2 SCA7, 1 SCA1, and 9 FRDA cases (or families). SCA10 was by far the most frequent one. Findings in SCA10 and FRDA families were of note. Affected genitors were not detected in 7 out of 22 SCA10 nuclear families; then overall maximal penetrance of SCA10 was estimated as 85%; in multiplex families, penetrance was 94%. Two out of nine FRDA cases carried only one allele with a GAA expansion. SCA10 was the most frequent hereditary ataxia in Peru. Our data suggested that ATTCT expansions at ATXN10 might not be fully penetrant and/or instability between generations might frequently cross the limits between non-penetrant and penetrant lengths. A unique distribution of inherited ataxias in Peru requires specific screening panels, considering SCA10 as first line of local diagnosis guidelines.
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