ArticleGenes2014
Genes and genetic testing in hereditary ataxias.
Article in Genes, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 39 citations in OpenAlex.
- Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar Ataxia.Cerebellum (London, England) · 2025Article
- The molecular landscape of hereditary ataxia: a single-center study.Human genetics · 2025Article
- Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2: Case Report.Neurology. Genetics · 2024Article
- Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.Cerebellum (London, England) · 2024Article
- Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.Journal of human genetics · 2023Article
- The shared genetic risk factors between Tourette syndrome and obsessive-compulsive disorder.Frontiers in neurology · 2023Review
- Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.Experimental and therapeutic medicine · 2022Article
- Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report.Heliyon · 2021Article
- Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.International journal of molecular sciences · 2021Article
- A Missense Variant inGenes · 2019Article
- The Role of Movement Analysis in Diagnosing and Monitoring Neurodegenerative Conditions: Insights from Gait and Postural Control.Brain sciences · 2019Review
- Models and mechanisms of repeat expansion disorders: a worm's eye view.Journal of genetics · 2018Review
- Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.Annals of neurology · 2018Article
- A SINE Insertion inG3 (Bethesda, Md.) · 2017Article
- Recent advances in modelling of cerebellar ataxia using induced pluripotent stem cells.Journal of neurology & neuromedicine · 2017Article
- Cerebellar degeneration affects cortico-cortical connectivity in motor learning networks.NeuroImage. Clinical · 2017Article
- Article
- Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.Journal of human genetics · 2016Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-linked, or mitochondrial fashion. A common mechanism of dominant ataxias is repeat expansions, where increasing lengths of repeated DNA sequences result in non-functional proteins that accumulate in the body causing disease. Greater understanding of all ataxia genes has helped identify several different pathways, such as DNA repair, ubiquitination, and ion transport, which can be used to help further identify new genes and potential treatments. Testing for the most common mutations in these genes is now clinically routine to help with prognosis and treatment decisions, but next generation sequencing will revolutionize how genetic testing will be done. Despite the large number of known ataxia causing genes, however, many individuals with ataxia are unable to obtain a genetic diagnosis, suggesting that more genes need to be discovered. Utilization of next generation sequencing technologies, expression studies, and increased knowledge of ataxia pathways will aid in the identification of new ataxia genes.
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.