ArticleCerebellum (London, England)2025
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia.
Article in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2026Pooled it
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors.
Funding
Abstract
The diagnosis of hereditary ataxias caused by repeat expansions continue to present unique methodological challenges, especially for developing countries where genomic medicine services are not well established. The purpose of this work is to present a cohort of patients who presented with adult-onset ataxia of suspected genetic etiology, but had remained undiagnosed until now. They were analyzed for a set of repeat expansions including the genes causing the more recently identified types, SCA27BandRFC1-related CANVAS. Patients with a possible diagnosis of hereditary cerebellar ataxia with adult onset underwent genetic testing to detect a set of repeat expansions known to cause autosomal dominant ataxia. In selected cases, a complete vestibular function evaluation and brain magnetic resonance imaging was acquired. In 17 of the 56 studied cases (including 11 of 43 index cases) we established a genetic diagnosis, which demonstrates that this is a promising approach to adult-onset ataxias in a population that remains underrepresented in worldwide genomic studies. We identified 9 individuals with SCA27B and 7 with CANVAS, highlighting the epidemiological relevance of these newly recognized etiologies, an information useful for planning the allocation of resources towards improving the access to genomic medicine in in our region.
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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.