ReviewMolecular diagnosis & therapy2018
Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing.
Review in Molecular diagnosis & therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 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
31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Saccadic Eye Movement in Mild Cognitive Impairment and Alzheimer's Disease: A Systematic Review and Meta-Analysis.Neuropsychology review · 2022Pooled it
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results.Nature medicine · 2024Trial
- Sporadic Alzheimer's disease with bipolar-like features: a case report and a brief review of the current research status.Journal of Zhejiang University. Science. B · 2026Review
- 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
- Survival rates in frontotemporal dementia and Alzheimer's disease.Neurodegenerative disease management · 2025Article
- Longitudinal behavioral and neuropsychiatric changes and their MRI correlates in predementiaJournal of Alzheimer's disease : JAD · 2025Article
- Deciding on genetic testing for familial dementia: Perspectives of patients and families.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.Neurology · 2025Article
- Article
- Attitudes of Family Members and Caregivers Regarding Alzheimer's Disease Pre-Symptomatic Screening.Journal of Alzheimer's disease reports · 2024Article
- Research Participants' Perspectives on Precision Diagnostics for Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2024Article
- Validation of the "Perceptions Regarding pRE-Symptomatic Alzheimer's Disease Screening" (PRE-ADS) Questionnaire in the German Population: Attitudes, Motivations, and Barriers to Pre-Symptomatic Dementia Screening.Journal of Alzheimer's disease : JAD · 2024Article
- Testing times for dementia: a community survey identifying contemporary barriers to risk reduction and screening.Alzheimer's research & therapy · 2023Article
- The role of neurofilament light in genetic frontotemporal lobar degeneration.Brain communications · 2023Review
- Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family.Frontiers in neurology · 2023Article
- Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.Alzheimer's research & therapy · 2022Article
- A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.Acta neuropathologica communications · 2022Article
- Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients.Brain sciences · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The advent of next-generation sequencing has changed genetic diagnostics, allowing clinicians to test concurrently for phenotypically overlapping conditions such as Alzheimer's disease (AD) and frontotemporal dementia (FTD). However, to interpret genetic results, clinicians require an understanding of the benefits and limitations of different genetic technologies, such as the inability to detect large repeat expansions in such diseases as C9orf72-associated FTD and amyotrophic lateral sclerosis. Other types of mutations such as large deletions or duplications and triple repeat expansions may also go undetected. Additionally, the concurrent testing of multiple genes or the whole exome increases the likelihood of discovering variants of unknown significance. Our goal here is to review the current knowledge about the genetics of AD and FTD and suggest up-to-date guidelines for genetic testing for these dementias. Despite the improvements in diagnosis due to biomarkers testing, AD and FTD can have overlapping symptoms. When used appropriately, genetic testing can elucidate the diagnosis and specific etiology of the disease, as well as provide information for the family and determine eligibility for clinical trials. Prior to ordering genetic testing, clinicians must determine the appropriate genes to test, the types of mutations that occur in these genes, and the best type of genetic test to use. Without this analysis, interpretation of genetic results will be difficult. Patients should be counseled about the benefits and limitations of different types of genetic tests so they can make an informed decision about testing.
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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.