ReviewNeurology2017
Genetic testing in ALS: A survey of current practices.
Review in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 4 of them syntheses that pooled it.
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
35 citing papers in PubMed, 4 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- The imaging signature of C9orf72 hexanucleotide repeat expansions: implications for clinical trials and therapy development.Brain imaging and behavior · 2021Pooled it
- Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis.JAMA neurology · 2020Pooled it
- A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada.European journal of human genetics : EJHG · 2026Article
- Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.Frontiers in neurology · 2026Review
- Neurologists' understanding of reproductive medicine options for genetic forms of motor neuron disease.Amyotrophic lateral sclerosis & frontotemporal degeneration · 2025Article
- Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members.European journal of human genetics : EJHG · 2025Review
- Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service.Journal of medical genetics · 2024Article
- Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.Translational neurodegeneration · 2024Review
- Estimated Familial Amyotrophic Lateral Sclerosis Proportion: A Literature Review and Meta-analysis.Neurology. Genetics · 2023Article
- Evidence-based consensus guidelines for ALS genetic testing and counseling.Annals of clinical and translational neurology · 2023Article
- Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.Neurology. Clinical practice · 2023Article
- Clinical testing panels for ALS: global distribution, consistency, and challenges.Amyotrophic lateral sclerosis & frontotemporal degeneration · 2023Review
- Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.European journal of neurology · 2023Article
- Limitations on knowledge of autoimmune encephalitis and barriers to its treatment among neurologists: a survey from western China.BMC neurology · 2023Article
- Review
- Potential roles of the endoplasmic reticulum stress pathway in amyotrophic lateral sclerosis.Frontiers in aging neuroscience · 2023Review
- Calculating variant penetrance from family history of disease and average family size in population-scale data.Genome medicine · 2022Article
- The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis.Brain : a journal of neurology · 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
7 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making.
methodsALS researchers worldwide were invited to participate in a detailed online survey to determine their attitudes and practices relating to genetic testing.
resultsResponses from 167 clinicians from 21 different countries were analyzed. The majority of respondents (73.3%) do not consider that there is a consensus definition of familial ALS (FALS). Fifty-seven percent consider a family history of frontotemporal dementia and 48.5% the presence of a known ALS genetic mutation as sufficient for a diagnosis of FALS. Most respondents (90.2%) offer genetic testing to patients they define as having FALS and 49.4% to patients with sporadic ALS. Four main genes (
conclusionsThere is a lack of consensus among clinicians as to the definition of FALS. Substantial variation exists in attitude and practices related to genetic testing of patients and presymptomatic testing of their relatives across geographic regions and between experienced specialists in ALS and nonspecialists.
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.