A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Open accessAbstract
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date.
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The GGGGCC repeat expansion suppresses the production of C9ORF72 protein by inhibiting transcription.
“The GGGGCC repeat expansion suppresses the production of C9ORF72 protein by inhibiting transcription (140, 153, 225, 369, 497, 520).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [497]
The Results report that C9ORF72 protein levels appeared reduced in ALS patient fibroblast lines, but call the finding preliminary and say whether the expansion decreases protein expression remains unresolved. The Results found no conclusive change in RNA levels, and the Discussion says the expansion’s effect on C9ORF72 expression requires further testing; the paper does not establish inhibition of C9ORF72 transcription as the cause. (LLM, conf=0.86)
Experimental — accuracy not yet measuredApproximately 10% of ALS cases are familial with autosomal dominant inheritance of mutations reported in at least 15 genes, including SOD1, TARDBP, FUS, ANG, and OPTN, and an expanded hexanucleotide repeat of GGGGCC in a noncoding region of the C9ORF72 gene.
“Approximately 10% of ALS cases are familial with autosomal dominant inheritance of mutations reported in at least 15 genes, including to name a few SOD1 , TARDBP , FUS , ANG , and OPTN (11, 18, 174, 465), and an expanded hexanucleotide repeat of GGGGCC in a noncoding region of the C9ORF72 gene (140, 497).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [497]
Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredThrough SCFAs, the gut microbiota actively communicates with host cells to regulate neurotrophic factors, neurotransmitters, and levels of neuroinflammation by affecting glial cell morphology and function, mitochondrial function, immune activation, lipid metabolism, and gene expression, thereby influencing central nervous system functions.
“Through SCFAs, the gut microbiota actively communicates with host cells to regulate neurotrophic factors, neurotransmitters, and levels of neuroinflammation by affecting glial cell morphology and function, mitochondrial function, immune activation, lipid metabolism, and gene expression, thereby influencing CNS functions.”
From Modulation of the gut–brain axis via the gut microbiota: a new era in treatment of amyotrophic lateral sclerosis (2023) · cites this paper as [57]
The most common genes identified in clinical practice include SOD1, C9ORF72, TARDBP, FUS, and OPTN/TDP-43.
“The most common genes identified in clinical practice include SOD1, C9ORF72, TARDBP, FUS, and OPTNTD-P43 (55–57, 73, 74).”
From Modulation of the gut–brain axis via the gut microbiota: a new era in treatment of amyotrophic lateral sclerosis (2023) · cites this paper as [57]
The most common genes linked to familial FTD are MAPT, GRN, and C9orf72.
“The most common genes linked to familial FTD are MAPT, progranulin (GRN), and chromosome 9 open reading frame 72 (C9orf72).”
From New developments of biofluid‐based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia (2022) · cites this paper as [35]
The C9orf72 hexanucleotide repeat expansion is the most common genetic cause of inherited ALS and FTD, accounting for 23-47% of familial cases and 4-21% of sporadic disease.
“In 2011, the seminal discovery of disease-associated expansion mutations within the C9orf72 gene uncovered the most common genetic cause of inherited ALS and FTD, accounting for 23–47% of familial cases and 4–21% of sporadic disease.”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [142]
Unaffected individuals carry 2-30 repeated GGGGCC stretches within the first intron of C9orf72, whereas patients with C9orf72-associated ALS-FTD harbor several hundred to thousands of repeats.
“Unaffected individuals carry 2–30 repeated stretches of GGGGCC within the first intron of the gene, but patients with C9orf72-associated ALS-FTD harbor several hundred to thousands of repeats [141,142].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [142]
C9orf72 intronic hexanucleotide repeat expansion (GGGGCC) was identified as the most common genetic cause of FTD and ALS.
“C9orf72 intronic hexanucleotide repeat expansion (GGGGCC) was identified as the most common genetic cause of FTD and ALS.304,335”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [335]
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- Authors
- Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., Kalimo, H., Paetau, A., Abramzon, Y., Remes, A. M., Kaganovich, A., Scholz, S. W., Duckworth, J., Ding, J., Harmer, D. W., Hernandez, D. G., Johnson, J. O., Mok, K., Ryten, M., Trabzuni, D., Guerreiro, R. J., Orrell, R. W., Neal, J., Murray, A., Pearson, J., Jansen, I. E., Sondervan, D., Seelaar, H., Blake, D., Young, K., Halliwell, N., Callister, J. B., Toulson, G., Richardson, A., Gerhard, A., Snowden, J., Mann, D., Neary, D., Nalls, M. A., Peuralinna, T., Jansson, L., Isoviita, V.-M., Kaivorinne, A.-L., Hölttä-Vuori, M., Ikonen, E., Sulkava, R., Benatar, M., Wuu, J., Chiò, A., Restagno, G., Borghero, G., Sabatelli, M., Heckerman, D., Rogaeva, E., Zinman, L., Rothstein, J. D., Sendtner, M., Drepper, C., Eichler, E. E., Alkan, C., Abdullaev, Z., Pack, S. D., Dutra, A., Pak, E., Hardy, J., Singleton, A., Williams, N. M., Heutink, P., Pickering-Brown, S., Morris, H. R., Tienari, P. J., & Traynor, B. J.
- Affiliations
- National Institutes of Health (US)
- Cardiff University (GB)
- University of Manchester (GB)
- University of Helsinki (FI)
- Oulu University Hospital (FI)
- Illumina (United States) (US)
- UCL Queen Square Institute of Neurology (GB)
- University Hospital of Wales (GB)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Erasmus MC (NL)
- University of Eastern Finland (FI)
- University of Miami (US)
- University of Turin (IT)
- Ospedale Sant'Anna (IT)
- University of Cagliari (IT)
- Microsoft (United States) (US)
- University of Toronto (CA)
- Sunnybrook Health Science Centre (CA)
- Johns Hopkins University (US)
- University of Würzburg (DE)
- Howard Hughes Medical Institute (US)
- Royal Gwent Hospital (GB)
- Corresponding author
- Traynor, Bryan J.
- ORCID
- Renton, Alan E.
- Waite, Adrian
- Rollinson, Sara
- Gibbs, J. Raphael
- Schymick, Jennifer C.
- Laaksovirta, Hannu
- Myllykangas, Liisa
- Kaganovich, Alice
- Scholz, Sonja W.
- Ding, Jinhui
- Hernandez, Dena G.
- Mok, Kin
- Ryten, Mina
- Guerreiro, Rita J.
- Murray, Alex
- Jansen, Iris E.
- Seelaar, Harro
- Blake, Derek
- Callister, Janis Bennion
- Toulson, Greg
- Richardson, Anna
- Snowden, Julie
- Mann, David
- Neary, David
- Isoviita, Veli-Matti
- Ikonen, Elina
- Benatar, Michael
- Wuu, Joanne
- Chiò, Adriano
- Borghero, Giuseppe
- Sabatelli, Mario
- Heckerman, David
- Rogaeva, Ekaterina
- Zinman, Lorne
- Rothstein, Jeffrey D.
- Sendtner, Michael
- Drepper, Carsten
- Eichler, Evan E.
- Alkan, Can
- Abdullaev, Ziedulla
- Pack, Svetlana D.
- Hardy, John
- Singleton, Andrew
- Williams, Nigel M.
- Heutink, Peter
- Pickering-Brown, Stuart
- Morris, Huw R.
- Tienari, Pentti J.
- Traynor, Bryan J.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2011-10
- Volume
- 72
- Issue
- 2
- Pages
- 257-268
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC3200438
- OpenAlex
- W2150523249
- Cited by
- 4,409
- References
- 39
- Citations by year
- 2026: 166 · 2025: 212 · 2024: 239 · 2023: 263 · 2022: 301 · 2021: 357 · 2020: 324 · 2019: 289 · 2018: 317 · 2017: 300 · 2016: 294 · 2015: 324 · 2014: 319 · 2013: 333 · 2012: 317
- FWCI
- 205.96
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Archive of Doctoral Theses and Digital Collections (University of Calabria) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" (submittedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
- VU Research Portal (submittedVersion, other-oa)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
- Use Siena air (University of Siena) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- Wellcome Trust (089701, 089703, 089698)
- Motor Neurone Disease Association (Morris/Oct09/6057)
- Terveyden ja hyvinvoinnin laitos
- National Institutes of Health (Z01-AG000949)
- Medical Research Council (MC_G1000735, MC_PC_09003, MC_G0901330, MC_G1000734)
- National Institute on Aging (Z01AG000949, ZIAAG000933, U24AG021886)
- National Institute of Neurological Disorders and Stroke
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- C9orf72, hexanucleotide repeat expansion, chromosome 9p21, amyotrophic lateral sclerosis, frontotemporal dementia, founder haplotype, familial ALS, sporadic ALS, Finnish population, autosomal dominant neurodegeneration, genetic susceptibility
- MeSH terms
- Alleles, Amyotrophic Lateral Sclerosis, Chromosomes, Human, Pair 9, Female, Finland, Genotype, Haplotypes, Humans, Male, Pedigree, Microsatellite Repeats, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Frontotemporal Dementia
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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