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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Open accessAbstract
Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenotype and TDP-43-based pathology. Analysis of extended clinical series found the C9ORF72 repeat expansion to be the most common genetic abnormality in both familial FTD (11.7%) and familial ALS (23.5%). The repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci, suggesting multiple disease mechanisms. Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS.
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“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 [140]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“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 [140]
In the citing paper
“They can also cross the BBB by upregulating the expression of tight junction proteins in the BBB with the assistance of endothelial cell monocarboxylate transport proteins (56).”
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 [56]
In the citing paper
“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 [56]
In the citing paper
“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 [141]
In the citing paper
“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 [141]
In the citing paper
“Mutation in C9orf72 accounts for 40% of familial ALS and FTD cases.303,304”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [304]
In the citing paper
“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 [304]
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The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia
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Self-citationPoly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers
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Self-citationDifferential autophagy power in the spinal cord and muscle of transgenic ALS mice
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“…dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma/translocated in liposarcoma protein (FUS/TLS), optineurin (Robberecht and Philips, 2013), or the C9ORF72 gene (Dejesus-Hernandez et al., 2011; Renton et al., 2011; Ash et al., 2013; Lashley et al., 2013; Mori et al., 2013).”
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“31 The PCR reactions (Qiagen) for both assays included Betaine and DMSO additives (MilliporeSigma).”
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“…in microtubule-associated protein tau (MAPT), progranulin (GRN) and C9orf72, and, less frequently, CHMP2B and VCP can cause an autosomal dominant form of FTD (Renton et al., 2011; DeJesus-Hernandez et al., 2011; Baker et al., 2006; Hutton et al., 1998; Skibinski et al., 2005; Watts et al., 2004).”
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C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism
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“The C9ORF72 mutation is responsible for the main part of ALS and frontotemporal dementia inherited cases (DeJesus-Hernandez et al., 2011).”
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“Confirmed genetic status (pending) 125 (10) 96 (3) 41 (2) 13 (1) 28 (0) 14 (0)”
Self-citationUBQLN2 mutations are rare in French and French–Canadian amyotrophic lateral sclerosis
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“…cause of chromosome 9p21-linked ALS/FTD (Frontotemporal dementia) families (c9ALS/FTD) and most F ( c E S b c G C w ( l d r w U 2 t u ( D a o m a T 3 f c c h h importantly the most common cause of familial ALS to date (DeJesus-Hernandez et al., 2011; Gijselinck et al., 2012; Renton et al., 2011).”
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“Several causative genes including chromosome 9 open reading frame 72 (C9orf72, DeJesus-Hernandez et al., 2011), Cu/Zn-superoxide dismutase (SOD1; Rosen et al., 1993), TAR DNA-binding protein (TARDBP) which encodes TDP43 (Sreedharan et al., 2008), and fused in sarcoma (FUS; Vance et al., 2009) have…”
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“INTRODUCTION Expansions of a hexonucleotide repeat within a noncoding region of the C9orf72 gene are a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (DeJesus-Hernandez et al., 2011; Renton et al., 2011; Gijselinck et al., 2012).”
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Lipid Metabolic Alterations in the ALS–FTD Spectrum of Disorders
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“cause ALS and some forms of FTD; for example, the hexanucleotide GGGGCC (G4C2) repeat expansion in the first intron of the C9ORF72 gene [27,28] is the most common genetic cause of both disorders [28,29].”
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“11,12 In a few decades, several rare genes and proteinopathies were identified, 5,13 and international consortia facilitated tremendous progress in the unveiling of the molecular characteristics of FTD. 14 Gradually, the measurement of CSF and blood biomarkers has attracted great interest and…”
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Impact of traumatic brain injury on amyotrophic lateral sclerosis: from bedside to bench
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“The repeat expansion in C9orf72, which is the largest genetic contributor to ALS as well as FTD (DeJesus-Hernandez et al. 2011; Renton et al. 2011), has been associated with disruptions in J Neurophysiol • doi:10.1152/jn.00572.2018 • www.jn.org Downloaded from www.physiology.org/journal/jn at Northwestern Univ (165.12…”
BackgroundInfluentialCould sirtuin activities modify ALS onset and progression?
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Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3
Koppers, M., Groen, E. J. N., van Vught, P. W. J., van Rheenen, W., Witteveen, E., van Es, M. A., Pasterkamp, R. J., van den Berg, L. H., & Veldink, J. H. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.09.018 · Cited by 20
C9ORF72‐ALS: P62‐ and ubiquitin‐aggregation pathology in skeletal muscle
Türk, M., Haaker, G., Winter, L., Just, W., Nickel, F. T., Linker, R. A., Chevessier, F., & Schröder, R. (2014) · Muscle & Nerve · doi:10.1002/mus.24283 · Cited by 18
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“Recently, the hexanucleotide (GGGGCC) repeat expansion in the fi rst intron of C9ORF72 , a gene located on chromosome 9p21, was described in a large proportion of patients with familial ALS and frontotemporal dementia (FTD) of Finnish and European ancestry (3,4).”
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Almeida, S., & Gao, F. (2016) · The EMBO Journal · doi:10.15252/embj.201694578 · Cited by 13
“Moreover, in a Drosophila model of FTD linked to chromosome 3, Rab8 is a strong modifier of mutant CHMP2B toxicity (West et al , 2015).”
InfluentialKim, E.-J., Vatsavayai, S., & Seeley, W. W. (2016) · The Behavioral Neurology of Dementia · doi:10.1017/9781139924771.008 · Cited by 7
Self-citationNemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS
Bekier, M. E., Pinarbasi, E., Krishnan, G., Mesojedec, J. J., Hurley, M., Harikumar Sheela, H., Collins, C. A., Ghaffari, L., de Majo, M., Ullian, E. M., et al. (2025) · Journal of Clinical Investigation · doi:10.1172/jci188138 · Cited by 2
Endosomal protein DENND10 promotes developmental competence of neurite extension
Li, A., Zhang, J., Ma, C., Qi, L., Hu, Q., Li, Q., Fang, Y., Song, J., Liu, Y., & Zhang, Y. (2025) · iScience · doi:10.1016/j.isci.2025.112385
Metadata
- Authors
- DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., Kouri, N., Wojtas, A., Sengdy, P., Hsiung, G.-Y. R., Karydas, A., Seeley, W. W., Josephs, K. A., Coppola, G., Geschwind, D. H., Wszolek, Z. K., Feldman, H., Knopman, D. S., Petersen, R. C., Miller, B. L., Dickson, D. W., Boylan, K. B., Graff-Radford, N. R., & Rademakers, R.
- Affiliations
- University of British Columbia (CA)
- Mayo Clinic (US)
- University of California, San Francisco (US)
- Mayo Clinic in Florida (US)
- University of California, Los Angeles (US)
- Corresponding author
- Mackenzie, Ian R.
- Rademakers, Rosa
- ORCID
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2011-10
- Volume
- 72
- Issue
- 2
- Pages
- 245-256
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC3202986
- OpenAlex
- W2154945114
- Semantic Scholar
- a14363772a9926a299f67b9fdebfb404d9b6100d
- Cited by
- 4,936
- References
- 58
- Citations by year
- 2026: 192 · 2025: 241 · 2024: 298 · 2023: 327 · 2022: 348 · 2021: 407 · 2020: 383 · 2019: 338 · 2018: 342 · 2017: 338 · 2016: 324 · 2015: 354 · 2014: 330 · 2013: 349 · 2012: 310
- FWCI
- 209.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (P50 AG016574)
- National Institute of Neurological Disorders and Stroke (NS057567, 1RC2NS070276, P50NS072187)
- Canadian Institutes of Health Research (74580, 179009)
- Dystonia Medical Research Foundation
- Amyotrophic Lateral Sclerosis Association
- Mayo Foundation for Medical Education and Research
- National Institutes of Health (R01 AG026251, R01 AG037491, R01 NS065782)
- Larry L. Hillblom Foundation (P50 AG1657303)
- Mayo Clinic (U01 AG006786)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- C9orf72, frontotemporal dementia, amyotrophic lateral sclerosis, chromosome 9p21, TDP-43 pathology, alternative splicing, familial neurodegenerative disease, genetic linkage
- MeSH terms
- C9orf72 Protein, Alleles, Amyotrophic Lateral Sclerosis, Chromosomes, Human, Pair 9, Female, Genotype, Haplotypes, Humans, Male, Pedigree, Proteins, Microsatellite Repeats, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, DNA Repeat Expansion, Frontotemporal Dementia
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