ArticleActa neuropathologica2015
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration.
Article in Acta neuropathologica, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis.JAMA neurology · 2020Pooled it
- Intrathecal (GActa neuropathologica communications · 2026Article
- Plasma isomiRs as Candidate Biomarkers for Amyotrophic Lateral Sclerosis.Neurology. Genetics · 2026Article
- Intrathecal (GbioRxiv : the preprint server for biology · 2026Article
- C9orf72-ALS mutation drives basal mitophagy impairments in iNeurons.Frontiers in cellular neuroscience · 2026Article
- Spatial covariance of mGluR5 density and structural degeneration in behavioral variant frontotemporal degeneration.Imaging neuroscience (Cambridge, Mass.) · 2026Article
- Higher neighborhood deprivation is associated with accelerated disease progression in behavioral-variant frontotemporal degeneration.Alzheimer's & dementia. Behavior & socioeconomics of aging · 2025Article
- Higher neighborhood deprivation is associated with accelerated disease progression in behavioral-variant frontotemporal degeneration.medRxiv : the preprint server for health sciences · 2025Article
- Choroidal evaluation of FTLD-Tau and biomarker-determined Alzheimer's disease.Scientific reports · 2025Article
- Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism.Journal of neurology · 2025Article
- Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.Molecular neurodegeneration · 2025Article
- Polygenic associations with clinical and neuropathological trait heterogeneity across TDP-43 proteinopathies.PloS one · 2025Article
- Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion.Molecular neurodegeneration · 2024Article
- CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides againstScience advances · 2023Article
- Pathological combinations in neurodegenerative disease are heterogeneous and disease-associated.Brain : a journal of neurology · 2023Article
- Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.Journal of neurology · 2023Article
- Reduced C9orf72 expression exacerbates polyGR toxicity in patient iPSC-derived motor neurons and a Type I protein arginine methyltransferase inhibitor reduces that toxicity.Frontiers in cellular neuroscience · 2023Article
- Association between risk polymorphisms for neurodegenerative diseases and cognition in colombian patients with frontotemporal dementia.Frontiers in neurology · 2022Article
- Epigenetic Small Molecules Rescue Nucleocytoplasmic Transport and DNA Damage Phenotypes in C9ORF72 ALS/FTD.Brain sciences · 2021Article
- Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology.Nature neuroscience · 2021Article
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
We investigated whether chromosome 9 open reading frame 72 hexanucleotide repeat expansion (C9orf72 expansion) size in peripheral DNA was associated with clinical differences in frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS) linked to C9orf72 repeat expansion mutations. A novel quantification workflow was developed to measure C9orf72 expansion size by Southern blot densitometry in a cross-sectional cohort of C9orf72 expansion carriers with FTD (n = 39), ALS (n = 33), both (n = 35), or who are unaffected (n = 21). Multivariate linear regressions were performed to assess whether C9orf72 expansion size from peripheral DNA was associated with clinical phenotype, age of disease onset, disease duration and age at death. Mode values of C9orf72 expansion size were significantly shorter in FTD compared to ALS (p = 0.0001) but were not associated with age at onset in either FTD or ALS. A multivariate regression model correcting for patient's age at DNA collection and disease phenotype revealed that C9orf72 expansion size is significantly associated with shorter disease duration (p = 0.0107) for individuals with FTD, but not with ALS. Despite considerable somatic instability of the C9orf72 expansion, semi-automated expansion size measurements demonstrated an inverse relationship between C9orf72 expansion size and disease duration in patients with FTD. Our finding suggests that C9orf72 repeat size may be a molecular disease modifier in FTD linked to hexanucleotide repeat expansion.
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