ReviewCurrent neurology and neuroscience reports2005
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Review in Current neurology and neuroscience reports, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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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.
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Who cites it
12 citing papers in PubMed, 38 citations in OpenAlex.
- Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.Journal of applied genetics · 2026Article
- A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.Cerebellum (London, England) · 2024Review
- Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.Neurology. Genetics · 2023Article
- Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.Frontiers in molecular neuroscience · 2022Article
- Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.Cerebellum (London, England) · 2021Observational
- Transcription-associated events affecting genomic integrity.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2014Article
- Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.Neurogenetics · 2011Article
- (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2.Brain research · 2010Article
- Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.Neurogenetics · 2010Article
- Article
- Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.The Journal of cell biology · 2007Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia (AOA) has been delineated. It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The phenotypes share several similarities, and the responsible genes, ATM, MRE11, APTX, and SETX, respectively, are all implicated in DNA break repair. As in many other DNA repair deficiencies, neurodegeneration is a hallmark of these diseases. Recently, the genes for two new autosomal recessive cerebellar ataxias with oculomotor apraxia, AOA1 and AOA2, were identified. Here, we report the phenotypic characteristics, genetic characteristics, and the recent advances concerning AOA1 and AOA2.
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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.