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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]
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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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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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“With the exception of individuals with mutations in TARDBP, GRN, VCP or c9ORF72 [10, 18], it is not clear whether TDP-43 proteinopathy in these other neurodegenerative diseases is”
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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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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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