ArticlePloS one2015
The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- The Differential Effects of Genetic Mutations in ALS and FTD Genes on Behavioural and Cognitive Changes: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2025Pooled it
- Non-motor symptoms questionnaire-based profiles in early-stage dementias: A prospective cohort study.Journal of Alzheimer's disease : JAD · 2026Article
- The Evolving Role of FDG-PET in Behavioral Variant Frontotemporal Dementia: Current Applications and Future Opportunities.International journal of molecular sciences · 2025Review
- Frontotemporal Dementia Differential Diagnosis in Clinical Practice: A Single-Center Retrospective Review of Frontal Behavioral Referrals.Neurology. Clinical practice · 2025Article
- No Association of Multiple Sclerosis withInternational journal of molecular sciences · 2023Article
- Proposed research criteria for prodromal behavioural variant frontotemporal dementia.Brain : a journal of neurology · 2022Article
- Molecular imaging biomarkers in familial frontotemporal lobar degeneration: Progress and prospects.Frontiers in neurology · 2022Review
- Convergent regional brain abnormalities in behavioral variant frontotemporal dementia: A neuroimaging meta-analysis of 73 studies.Alzheimer's & dementia (Amsterdam, Netherlands) · 2022Review
- Unravelling the clinical spectrum and the role of repeat length inJournal of neurology, neurosurgery, and psychiatry · 2021Review
- Clinical Update on C9orf72: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Beyond.Advances in experimental medicine and biology · 2021Article
- Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.Neurobiology of disease · 2020Review
- Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders.Brain : a journal of neurology · 2020Review
- Serum neurofilament light chain is a discriminative biomarker between frontotemporal lobar degeneration and primary psychiatric disorders.Journal of neurology · 2020Article
- Prodromal and Early bvFTD: Evaluating Clinical Features and Current Biomarkers.Frontiers in neuroscience · 2019Review
- Clinical utility of FDG-PET in amyotrophic lateral sclerosis and Huntington's disease.European journal of nuclear medicine and molecular imaging · 2018Review
- Frontotemporal dementia as a comorbidity to idiopathic normal pressure hydrocephalus (iNPH): a short review of literature and an unusual case.Fluids and barriers of the CNS · 2017Review
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundThe C9ORF72 expansion is one of the most common genetic etiologies observed with behavioural variant frontotemporal dementia (bvFTD). Revised diagnostic criteria for bvFTD (FTDC) were recently introduced but only a few studies have evaluated the accuracy of these criteria.
objectiveThe objective of the study was to evaluate the applicability of the FTDC criteria and assess the psychiatric history of these patients.
methodsThe study examined 36 patients carrying the C9ORF72 expansion and suffering from bvFTD (N = 32) or from bvFTD with motor neuron disease (bvFTD-MND, N = 4). Neuropsychological, neuropsychiatric, structural brain imaging and PET/SPECT data were evaluated.
resultsWe found 0.75 sensitivity (SD 0.44, 95%CI 0.57-0.87) for possible bvFTD and 0.64 (SD 0.44, 95%CI 0.57-0.87) for probable bvFTD. The sensitivity was even higher in bvFTD patients without MND, i.e., 0.81 for possible bvFTD and 0.69 for probable bvFTD. PET/SPECT was normal in 17.6% of scanned patients with bvFTD. A history of psychiatric symptoms (psychotic and/or mood symptoms) was detected in 61% of cases.
conclusionsThe FTDC possible and probable bvFTD criteria seem to identify the majority of the C9ORF72 expansion carriers with bvFTD, even though they exhibit only a limited number of behavioral criteria but a significant amount of psychiatric symptoms. The presence of a normal PET/SPECT does not exclude the possibility the C9ORF72 associated bvFTD.
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