ArticlePloS one2013
C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 59 citations in OpenAlex.
- Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism.Journal of neurology · 2025Article
- A novelFrontiers in genetics · 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
- Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Review
- 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
- Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population.Frontiers in neurology · 2021Article
- Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.Neuromuscular disorders : NMD · 2020Article
- Distal hereditary motor neuronopathy of the Jerash type is caused by a novelJournal of medical genetics · 2020Article
- Repeat-associated non-AUG (RAN) translation mechanisms are running into focus for GGGGCC-repeat associated ALS/FTD.Progress in neurobiology · 2019Review
- C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.Acta neuropathologica · 2019Article
- Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.Amyotrophic lateral sclerosis & frontotemporal degeneration · 2019Article
- C9orf72-FTD/ALS pathogenesis: evidence from human neuropathological studies.Acta neuropathologica · 2019Review
- The Genetics ofCold Spring Harbor perspectives in medicine · 2018Review
- Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis.Acta neuropathologica communications · 2017Article
- The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.Molecular psychiatry · 2016Article
- Jump from pre-mutation to pathologic expansion in C9orf72.American journal of human genetics · 2015Article
- Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.Neurobiology of aging · 2015Article
- Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Acta neuropathologica · 2015Article
- A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.Journal of medical genetics · 2014Article
- The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Acta neuropathologica · 2014Review
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Authors and funding
18 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD patient collections (one Australian and one Spanish, combined n = 190), to examine C9ORF72 expansion allele length in a subset of FTD patients, and to examine C9ORF72 allele length in 'non-expansion' patients (those with <30 repeats). The C9ORF72 repeat expansion was detected in 5-17% of patients (21-41% of familial FTD patients). For one family, the expansion was present in the proband but absent in the mother, who was diagnosed with dementia at age 68. No association was found between C9ORF72 non-expanded allele length and age of onset and in the Spanish sample mean allele length was shorter in cases than in controls. Southern blotting analysis revealed that one of the nine 'expansion-positive' patients examined, who had neuropathologically confirmed frontotemporal lobar degeneration with TDP-43 pathology, harboured an 'intermediate' allele with a mean size of only ∼65 repeats. Our study indicates that the C9ORF72 repeat expansion accounts for a significant proportion of Australian and Spanish FTD cases. However, C9ORF72 allele length does not influence the age at onset of 'non-expansion' FTD patients in the series examined. Expansion of the C9ORF72 allele to as little as ∼65 repeats may be sufficient to cause disease.
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