SynthesisNeurology2015
Prevalence of neurogenetic disorders in the North of England.
Synthesis in Neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed.
- Advanced therapies for inherited optic neuropathies.Eye (London, England) · 2026Review
- Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT).Environmental and molecular mutagenesis · 2025Review
- Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort.Cerebellum (London, England) · 2025Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.Neurology. Genetics · 2024Article
- Incidence and prevalence of mtDNA-related adult mitochondrial disease in Southwest Finland, 2009-2022: an observational, population-based study.BMJ neurology open · 2024Article
- Article
- Remarks on Mitochondrial Myopathies.International journal of molecular sciences · 2022Review
- Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report.BMC neurology · 2022Article
- Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.Cell reports · 2022Article
- Retinal Ganglion Cells-Diversity of Cell Types and Clinical Relevance.Frontiers in neurology · 2021Review
- What We Fail to See in Neuro-Genetic Diseases: A Bird's Eye View from the Developing World.Annals of neurosciences · 2020Article
- Spinocerebellar ataxia: an update.Journal of neurology · 2019Review
- Leber's hereditary optic neuropathy misdiagnosed as optic neuritis and Lyme disease in a patient with multiple sclerosis.BMJ case reports · 2018Article
- The role of tRNA synthetases in neurological and neuromuscular disorders.FEBS letters · 2018Review
- Observational
- Sleep Disorders in Childhood Neurogenetic Disorders.Children (Basel, Switzerland) · 2017Review
- Genetic manipulation for inherited neurodegenerative diseases: myth or reality?The British journal of ophthalmology · 2016Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
objectiveGenetic disorders enter the differential diagnosis of common neurologic diseases, but their overall prevalence is not known. We set out to determine their minimum prevalence.
methodsMeta-analysis of epidemiologic data gathered from the same geographic region in the North of England.
resultsMonogenic neurologic disorders affect at least 90.9/100,000 (95% confidence interval 87.6-94.3), or 1 in 1,100 of the population in Northern England.
conclusionAs a group, neurogenetic disorders are not rare. These findings have implications for clinical service delivery.
Indexed as
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.