ArticleNeurology. Genetics2025
Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia.
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
2 citing papers in PubMed.
- The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach.Journal of clinical medicine · 2025Article
- Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.Biomedicines · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by Methods: We analyzed AAO and genotype of siblings with FRDA. Linear regression examined AAO differences and genetic predictors (GAA1 length and Results: This study included 150 siblings with FRDA from 70 families. GAA1 and AAO differences between siblings were not significant, although discordance between siblings in the diagnosis of hypertrophic cardiomyopathy and scoliosis was noted in approximately a quarter of the families. Differences in GAA1 length predicted a modest amount of AAO heterogeneity (R Discussion: Genetic and phenotypic variability between paired siblings with FRDA was moderate to small, with GAA1 differences explaining some of the variance in AAO. Other factors (genetic or environmental) or data collection bias may explain the remaining variance. These findings highlight the complexity of FRDA and reiterate the role of GAA1 length in disease severity.
Identifiers
What OpenQuestion holds
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.