ArticleDementia and geriatric cognitive disorders extra2013
Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration.
Article in Dementia and geriatric cognitive disorders extra, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis.JAMA neurology · 2020Pooled it
- Longitudinal imaging inNeuroImage. Clinical · 2016Trial
- Genetic and Clinical Insights into ALS/FTD: Profiling a Rare Cohort to Explore Spectrum Heterogeneity.Journal of personalized medicine · 2025Article
- Nuts and Bolts of Consensus Recommendations of Biomarkers and Genetic Testing to Differentiate Behavioral Variant Frontotemporal Dementia From Primary Psychiatric Disorders.Indian journal of psychological medicine · 2024Article
- Proposed research criteria for prodromal behavioural variant frontotemporal dementia.Brain : a journal of neurology · 2022Article
- Deficient neurotransmitter systems and synaptic function in frontotemporal lobar degeneration-Insights into disease mechanisms and current therapeutic approaches.Molecular psychiatry · 2022Review
- Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.Neurobiology of disease · 2020Review
- A Systematic Review of Genotype-Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS.Journal of personalized medicine · 2020Review
- Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms.Current neurology and neuroscience reports · 2019Review
- Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance.Scientific reports · 2017Article
- 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
- The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD.PloS one · 2015Article
- The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Acta neuropathologica · 2014Review
- ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.European neurology · 2014Article
- Automatic MRI Quantifying Methods in Behavioral-Variant Frontotemporal Dementia Diagnosis.Dementia and geriatric cognitive disorders extraArticle
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundThe most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) has been linked to a hexanucleotide repeat expansion in the C9ORF72 gene. The frequency of the C9ORF72 expansion in Finland is among the highest in the world.
methodsWe assessed 73 Finnish patients with FTLD in order to examine the clinical characteristics associated with the expanded C9ORF72. Demographic and clinical features were evaluated. As a potential disease modifier, the apolipoprotein E (APOE) genotype was also assessed. Neuropathological analysis was available on 2 expansion carriers and 1 non-carrier.
resultsThe C9ORF72 expansion was present in 20 of 70 (29%) probands. Significant associations with the C9ORF72 expansion were observed for concomitant ALS and positive family history of dementia or ALS. Psychoses were detected in both carriers and non-carriers (21 vs. 10%, p = 0.25). The APOE ε4 allele did not cluster among expansion carriers. Numerous p62-positive neuronal inclusions were detected in the cerebellar cortex of the 2 expansion carriers.
conclusionIn line with the suggested C9ORF72 core phenotype, we also detected a high frequency of neuropsychiatric symptoms; however, these symptoms seem not be specific to C9ORF72-associated FTLD. FTLD should be considered in cases of middle-age-onset psychosis.
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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.