ArticleNeurobiology of aging2013
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians.
Article in Neurobiology of aging, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 85 citations in OpenAlex.
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- Interpretation of Neurodegenerative GWAS Risk Alleles in Microglia and their Interplay with Other Cell Types.Advances in neurobiology · 2024Review
- Young Onset Alzheimer's Disease Associated withGenes · 2023Article
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- New developments of biofluid-based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Review
- CYLD variants identified in Alzheimer's disease and frontotemporal dementia patients.Annals of clinical and translational neurology · 2022Article
- The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- The genetic architecture of Alzheimer disease risk in the Ohio and Indiana Amish.HGG advances · 2022Article
- Therapeutic Targeting of Rab GTPases: Relevance for Alzheimer's Disease.Biomedicines · 2022Review
- Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus.Neurobiology of aging · 2021Article
- Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease.Alzheimer's & dementia (Amsterdam, Netherlands) · 2021Article
- Correlation between C9ORF72 mutation and neurodegenerative diseases: A comprehensive review of the literature.International journal of medical sciences · 2021Review
- C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases.PLoS genetics · 2020Article
- C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition.Neurobiology of aging · 2019Article
- Repeat-associated non-AUG translation in C9orf72-ALS/FTD is driven by neuronal excitation and stress.EMBO molecular medicine · 2019Article
- Identifying Common Genes, Cell Types and Brain Regions Between Diseases of the Nervous System.Frontiers in genetics · 2019Article
- Genetics of dementia in a Finnish cohort.European journal of human genetics : EJHG · 2018Article
- C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.Movement disorders : official journal of the Movement Disorder Society · 2018Article
- Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.PloS one · 2018Article
- Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.PLoS genetics · 2017Article
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Authors and funding
21 authors at 4 institutions in 1 country.
Funding
Abstract
Recently, a hexanucleotide repeat expansion in the C9ORF72 gene has been identified to account for a significant portion of Caucasian families affected by frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Given the clinical overlap of FTD with Alzheimer's disease (AD), we hypothesized that C9ORF72 expansions might contribute to AD. In Caucasians, we found C9ORF72 expansions in the pathogenic range of FTD/ALS (>30 repeats) at a proportion of 0.76% in AD cases versus 0 in control subjects (p = 3.3E-03; 1182 cases, 1039 controls). In contrast, no large expansions were detected in individuals of African American ethnicity (291 cases, 620 controls). However, in the range of normal variation of C9ORF72 expansions (0-23 repeat copies), we detected significant differences in distribution and mean repeat counts between Caucasians and African Americans. Clinical and pathological re-evaluation of identified C9ORF72 expansion carriers revealed 9 clinical and/or autopsy confirmed AD and 2 FTD final diagnoses. Thus, our results support the notion that large C9ORF72 expansions lead to a phenotypic spectrum of neurodegenerative disease including AD.
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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.