ReviewNature reviews. Neurology2021
Genetic testing in dementia - utility and clinical strategies.
Review in Nature reviews. Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis 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
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- The neurophysiology of healthy and pathological aging: a comprehensive systematic review.Brain structure & function · 2025Pooled it
- Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.Human molecular genetics · 2026Article
- Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic Presentations.Neurology · 2026Article
- Frontotemporal dementia: Clinical aspects, genetics, and neuropathology of a family with a C9ORF72 expansion in Argentina.Brain pathology (Zurich, Switzerland) · 2026Article
- Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.Scientific reports · 2026Article
- Impact of diagnostic genetic testing for familial dementia: experiences of patients and relatives.Alzheimer's research & therapy · 2026Article
- CSF1R mutations in an Italian population of early-onset dementia: a case series.Journal of neurology · 2026Article
- Ensemble Deep Learning Denoising (EDLD) model and optimized OTSU segmentation for Alzheimer's disease diagnosis using MRI images.Frontiers in artificial intelligence · 2026Article
- Decoding Huntington's disease: a global survey on symptoms and genetic testing practices.European archives of psychiatry and clinical neuroscience · 2025Article
- Special Issue: The Role of Genetics in Dementia.International journal of molecular sciences · 2025Article
- HTT loss-of-function contributes to RNA deregulation in developing Huntington's disease neurons.Cell & bioscience · 2025Article
- Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.Neurology · 2025Article
- A mini review of transforming dementia care in China with data-driven insights: overcoming diagnostic and time-delayed barriers.Frontiers in aging neuroscience · 2025Review
- Expanding the phenotype of psychiatric-onset prodromal dementia with Lewy bodies.Journal of neurology · 2024Article
- Disparities in Genetic Testing for Neurologic Disorders.Neurology · 2024Article
- Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.Journal of neurology · 2024Review
- Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis.PEC innovation · 2023Article
- Clinical considerations in early-onset cerebral amyloid angiopathy.Brain : a journal of neurology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
Techniques for clinical genetic testing in dementia disorders have advanced rapidly but remain to be more widely implemented in practice. A positive genetic test offers a precise molecular diagnosis, can help members of an affected family to determine personal risk, provides a basis for reproductive choices and can offer options for clinical trials. The likelihood of identifying a specific genetic cause of dementia depends on the clinical condition, the age at onset and family history. Attempts to match phenotypes to single genes are mostly inadvisable owing to clinical overlap between the dementias, genetic heterogeneity, pleiotropy and concurrent mutations. Currently, the appropriate genetic test in most cases of dementia is a next-generation sequencing gene panel, though some conditions necessitate specific types of test such as repeat expansion testing. Whole-exome and whole-genome sequencing are becoming financially feasible but raise or exacerbate complex issues such as variants of uncertain significance, secondary findings and the potential for re-analysis in light of new information. However, the capacity for data analysis and counselling is already restricting the provision of genetic testing. Patients and their relatives need to be given reliable information to enable them to make informed choices about tests, treatments and data sharing; the ability of patients with dementia to make decisions must be considered when providing this information.
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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.