ReviewNeurology international2022
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.
Review in Neurology international, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 28 citations in OpenAlex.
- Proteome Profiling of Rabies-Infected and Uninfected Dog Brain Tissues, Cerebrospinal Fluids and Serum Samples.Proteomes · 2025Article
- Identification of a NovelGenes · 2025Article
- Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.Children (Basel, Switzerland) · 2025Article
- Decreased mitochondrial activity in the demyelinating cerebellum of progressive multiple sclerosis and chronic EAE contributes to Purkinje cell loss.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.Acta neuropathologica · 2025Article
- A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies.Frontiers in neurology · 2025Review
- Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4.Frontiers in genetics · 2025Article
- Genetic modeling of degenerative diseases and mechanisms of neuronal regeneration in the zebrafish cerebellum.Cellular and molecular life sciences : CMLS · 2024Review
- An overview of early-onset cerebellar ataxia: a practical guideline.Acta neurologica Belgica · 2024Review
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Article
- Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Article
- Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?International journal of molecular sciences · 2023Review
- [Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].Revista de neurologia · 2023Review
- Fluctuating ataxia caused by mitochondrial tRNA (Lys) gene m.8363G > A variant.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to proprioceptive loss. Despite mitochondrial ataxias having no specific defining features, they should be included in hereditary ataxias differential diagnosis, given the high prevalence of PMDs. This review focuses on the clinical and neuropathological features and genetic background of PMDs in which ataxia is a prominent manifestation.
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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.