ReviewNeurology. Clinical practice2018
Molecular genetic testing for hereditary ataxia: What every neurologist should know.
Review in Neurology. Clinical practice, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 27 citations in OpenAlex.
- Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Brain : a journal of neurology · 2026Article
- Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Clinical Reasoning: A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation.Neurology · 2025Article
- Hereditary Ataxias in Argentina.Cerebellum (London, England) · 2025Review
- Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.European journal of human genetics : EJHG · 2025Article
- Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.Neurology. Genetics · 2024Article
- Review
- Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy.Neurosciences (Riyadh, Saudi Arabia) · 2023Article
- Article
- Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.Stem cell reviews and reports · 2022Review
- Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.Neurology. Clinical practice · 2021Review
- Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.Journal of human genetics · 2020Observational
- Prevalence ofNeurology. Genetics · 2020Article
- Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Article
- Ode to the humble Southern blot in the era of exomes.Neurology. Clinical practice · 2018Article
- Diagnosis of Spinocerebellar Ataxia in the West Indies.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
purpose of reviewBecause of extensive clinical overlap among many forms of hereditary ataxia, molecular genetic testing is often required to establish a diagnosis. Interrogation of multiple genes has become a popular diagnostic approach as the cost of sequence analysis has decreased and the number of genes associated with overlapping phenotypes has increased. We describe the benefits and limitations of molecular genetic tests commonly used to determine the etiology of hereditary ataxia. RECENT
findingsThere are more than 300 hereditary disorders associated with ataxia. The most common causes of hereditary ataxia are expansion of nucleotide repeats within 7 genes: SUMMARY: The majority of individuals with hereditary ataxias have nucleotide repeat expansions, pathogenic variants that are not detectable with clinical exome sequencing. Multigene panels that include specific assays to determine nucleotide repeat lengths should be considered first in individuals with hereditary ataxia.
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.