ArticleNeurology2012
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.
Article in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 117 citations in OpenAlex.
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- Genetic and Clinical Insights into ALS/FTD: Profiling a Rare Cohort to Explore Spectrum Heterogeneity.Journal of personalized medicine · 2025Article
- Gaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- 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
- A scoping review of the unique landscape and challenges associated with dementia in the Western Pacific region.The Lancet regional health. Western Pacific · 2024Article
- Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion inJournal of geriatric psychiatry and neurology · 2024Article
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- Psychosis Caused by a Somatic Condition: How to Make the Diagnosis? A Systematic Literature Review.Children (Basel, Switzerland) · 2023Review
- Psychotic symptoms in frontotemporal dementia with TDP-43 tend to be associated with type B pathology.Neuropathology and applied neurobiology · 2023Article
- Psychosis as a Treatment Target in Dementia: A Roadmap for Designing Interventions.Journal of Alzheimer's disease : JAD · 2022Review
- Cognitive Dysfunction in Repeat Expansion Diseases: A Review.Frontiers in aging neuroscience · 2022Review
- C9orf72 regulates the unfolded protein response and stress granule formation by interacting with eIF2α.Theranostics · 2022Article
- Neural mechanisms of psychosis vulnerability and perceptual abnormalities in the ALS-FTD spectrum.Annals of clinical and translational neurology · 2021Article
- The Role of White Matter Dysfunction and Leukoencephalopathy/Leukodystrophy Genes in the Aetiology of Frontotemporal Dementias: Implications for Novel Approaches to Therapeutics.International journal of molecular sciences · 2021Review
- Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders.Brain : a journal of neurology · 2020Review
- Development of disease-modifying drugs for frontotemporal dementia spectrum disorders.Nature reviews. Neurology · 2020Review
- Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.JAMA neurology · 2018Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo determine the frequency of a hexanucleotide repeat expansion in C9ORF72, a gene of unknown function implicated in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), in Australian FTD patient cohorts and to examine the clinical and neuropathologic phenotypes associated with this expansion.
methodsWe examined a clinically ascertained FTD cohort (n = 89) and a neuropathologically ascertained cohort of frontotemporal lobar degeneration cases with TDP-43 pathology (FTLD-TDP) (n = 22) for the C9ORF72 hexanucleotide repeat expansion using a repeat primed PCR assay. All expansion-positive patients were genotyped for rs3849942, a surrogate marker for the chromosome 9p21 risk haplotype previously associated with FTD and ALS.
resultsThe C9ORF72 repeat expansion was detected in 10% of patients in the clinically diagnosed cohort, rising to 29% in those with a positive family history of early-onset dementia or ALS. The prevalence of psychotic features was significantly higher in expansion-positive cases (56% vs 14%). In the pathology cohort, 41% of TDP-43-positive cases harbored the repeat expansion, and all exhibited type B pathology. One of the 17 expansion-positive probands was homozygous for the "nonrisk" G allele of rs3849942.
conclusionsThe C9ORF72 repeat expansion is a relatively common cause of FTD in Australian populations, and is especially common in those with FTD-ALS, psychotic features, and a strong family history. Detection of a repeat expansion on the 9p21 putative "nonrisk" haplotype suggests that not all mutation carriers are necessarily descended from a common founder and indicates that the expansion may have occurred on multiple haplotype backgrounds.
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