ArticleMolecular psychiatry2021
Clinico-genetic findings in 509 frontotemporal dementia patients.
Article in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed.
- Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.Human molecular genetics · 2026Article
- Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change.Neurology. Genetics · 2026Article
- Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles.Annals of neurology · 2026Article
- Tissue-specific immune and MAPK signatures in models of reduced Progranulin and Western diet.Neurobiology of disease · 2026Article
- Volumetric MRI and FDG-PET hypometabolism biomarkers of frontotemporal dementia: protocol for a systematic review and meta-analysis.BMJ open · 2025Article
- Genetics of Frontotemporal Dementia in the Serbian Population: Findings from a Hospital-Based Cohort.Neurology international · 2025Article
- Decoding subphenotypes in electronic medical records within late-onset Alzheimer's disease reveals heterogeneity and sex-specific differences.medRxiv : the preprint server for health sciences · 2025Article
- Understanding the genetics and neurology: an overview of adult neurogenetics.Asian biomedicine : research, reviews and news · 2025Review
- A role for astrocytic miR-129-5p in frontotemporal dementia.Translational psychiatry · 2025Article
- Primary Progressive Aphasia Treatment: Current Treatment Options in Neurology Article Topic: Management of Primary Progressive Aphasia.Current treatment options in neurology · 2025Review
- The Search for a Universal Treatment for Defined and Mixed Pathology Neurodegenerative Diseases.International journal of molecular sciences · 2024Review
- Blood-Based Biomarkers in Frontotemporal Dementia: A Narrative Review.International journal of molecular sciences · 2024Review
- Review
- Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center.Neurogenetics · 2024Article
- The ABC's of Alzheimer risk gene ABCA7.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- Endo-lysosomal dysfunction in neurodegenerative diseases: opinion on current progress and future direction in the use of exosomes as biomarkers.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Review
- Examining the relation between bilingualism and age of symptom onset in frontotemporal dementia.Bilingualism (Cambridge, England) · 2024Article
- Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of theNeurology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous disorder. To which extent genetic aberrations dictate clinical presentation remains elusive. We investigated the spectrum of genetic causes and assessed the genotype-driven differences in biomarker profiles, disease severity and clinical manifestation by recruiting 509 FTD patients from different centers of the German FTLD consortium where individuals were clinically assessed including biomarker analysis. Exome sequencing as well as C9orf72 repeat analysis were performed in all patients. These genetic analyses resulted in a diagnostic yield of 18.1%. Pathogenic variants in C9orf72 (n = 47), GRN (n = 26), MAPT (n = 11), TBK1 (n = 5), FUS (n = 1), TARDBP (n = 1), and CTSF (n = 1) were identified across all clinical subtypes of FTD. TBK1-associated FTD was frequent accounting for 5.4% of solved cases. Detection of a homozygous missense variant verified CTSF as an FTD gene. ABCA7 was identified as a candidate gene for monogenic FTD. The distribution of APOE alleles did not differ significantly between FTD patients and the average population. Male sex was weakly associated with clinical manifestation of the behavioral variant of FTD. Age of onset was lowest in MAPT patients. Further, high CSF neurofilament light chain levels were found to be related to GRN-associated FTD. Our study provides large-scale retrospective clinico-genetic data such as on disease manifestation and progression of FTD. These data will be relevant for counseling patients and their families.
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.