Pure frontotemporal dementia, pure amyotrophic lateral sclerosis or combination of the two¹. Nominal associations with risk of Parkinson's have also been reported². May present as non-Huntington chorea in rare cases³.

Prevalence

The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population; overall ALS incidence is 1-2/100,000 person-years, point prevalence is 3-5/100,000 (Europe/US); lifetime risk is 1 in 300⁴. Relatives of patients with C9orf72-ALS appear at an increased risk of disease regardless of carrier status^5,6. C9orf72-FTD is estimated to be 0.04-134:100,000⁷, and by our estimates 0.65-1.56/100,000 for C9orf72-ALS. The expansion has been found across ethnicities/ancestries, with population-dependent prevalence, highest in those with northern European ancestry⁷.

Age of Onset

Typical: 50-64; Range: 20-91⁷.

Association

MendelianRisk

Locus

hg19chr9:27573482-27573544

hg38chr9:27573484-27573546

t2tchr9:27584063-27584155

Details

FTD and ALS form a clinical spectrum^8,9. The clinical ranges of the C9orf72 locus remain ambiguous^10,11: most healthy controls have alleles up to 24 repeats¹²yet 24-30 repeats are associated with ALS⁴and while 60 repeats is frequently used as a threshold for uncertain alleles, the exact threshold of pathogenicity remains unclear^7,13. Repeats of 80 motifs and lower appear to have delayed onset for any phenotype¹². >250 repeats are associated with a full FTD/ALS disease state¹⁴, but pathogenic alleles can range from 30 to more than 4000 repeats^13,15. Somatic C9orf72 repeat expansions may emerge de novo in CNS tissue from alleles below the pathogenic range, potentially contributing to sporadic ALS/FTD¹⁶. Penetrance appears to also be age-dependent, with environmental factors and specific phenotypes associated with sex and age at onset¹⁷. Methylation appears to increase with expansion length and age¹⁵, and C9orf72 promoter hypermethylation has been observed in expansion carriers¹⁸. ALS caused by repeat expansions in C9orf72 generally has a faster progression than other ALS presentations¹⁹. C9orf72 expansions have been associated with reduced thalamic volume in undiagnosed carriers, and plasma NfL correlates with repeat count and independently predicts MND risk^11,20. Pathogenic C9orf72 repeat expansions have also been identified in ambiguous late-onset behavioral or psychiatric-like presentations, including executive deficits, apathy, and stereotyped behavior²¹.

Mechanism

GoF/LoF

Three overlapping mechanisms are supported: C9orf72 loss of function, RNA gain-of-function, and dipeptide repeat protein gain-of-function²². Expansions are associated with reduced C9orf72 expression in multiple ALS tissues and altered splicing of the exon 1a isoform²³. The hexanucleotide repeat expansion (HRE) forms DNA and RNA G-quadruplexes with distinct structures and promotes RNA/DNA hybrids (R-loops), and this structural polymorphism causes a repeat length-dependent accumulation of transcripts aborted in the HRE region²⁴. Bidirectional transcription produces sense (GGGGCC) and antisense (GGCCCC) nuclear RNA foci that sequester RNA-binding proteins^25,26. RAN translation of both strands yields five DPRs that aggregate in p62-positive neuronal inclusions^27,28, with aberrant splicing retaining the repeat in an extended exon 1 and providing access to cytoplasmic translation machinery²⁹. In neurons, RAN translation is less efficient but significantly more cap-independent than in other cells³⁰. TDP-43 nuclear depletion with cytoplasmic aggregation is the convergent downstream mechanistic feature^31,32; repeat expression induces TDP-43-dependent cryptic exon inclusion regardless of C9orf72 dosage, implicating gain-of-function³³. Multiple cell types in the prefrontal cortex, including oligodendrocytes, microglia, astrocytes, and neurons, appear impacted during pathogenesis³⁴.

Detection

Bidirectional RP-PCR is typically used for detection³⁵. Large pathogenic expansions are difficult to size exactly by PCR, so Southern blot is used to better estimate size³⁶, while long-read sequencing provides direct sizing and sequence characterization³⁷.

Year

2011³⁵

Location in Gene

Intron 1 or 5' UTR depending on transcript

Gene Strand

Alleles

Ref. Motif

GGCCCC

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

CCCCGG

Pathogen. (gene)

CCGGGG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interrup. (gene)

–

gnomAD

References

Direct supporting references for info on this page.

Repeat expansion disorders.

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

Practical neurology · 2025-05-15

pmid:39349043

Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study.

Zhen,Hu, Qin-Qin,Yan, Jing-Jin,Wan, Yu,Fan, Jun,Liu

Movement disorders : official journal of the Movement Disorder Society · 2025-10-11

pmid:41074692

Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.

Fulya,Akçimen, Monica,Diez-Fairen, Ignacio,Alvarez, Victor,Puente, Spencer,Grant, Jorge,Hernandez-Vara, Marzieh,Khani, Mariateresa,Buongiorno, Félix Javier,Jiménez-Jiménez, José A G,Agúndez, Miquel,Aguilar, Esther,Cubo, Jesus,Perez, Javier,Pagonabarraga, Núria,Caballol, Asuncion,Avila, Jinhui,Ding, Elena,García-Martín, Hortensia,Alonso-Navarro, Yaroslau,Compta, Carlos,Cruchaga, Katrin,Beyer, J Raphael,Gibbs, Andrew,Singleton, Sara,Bandres-Ciga, Pau,Pastor

NPJ genomic medicine · 2026-04-09

pmid:41957010

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS.

Alfredo,Iacoangeli, Ahmad,Al Khleifat, Ashley R,Jones, William,Sproviero, Aleksey,Shatunov, Sarah,Opie-Martin, Karen E,Morrison, Pamela J,Shaw, Christopher E,Shaw, Isabella,Fogh, Richard J,Dobson, Stephen J,Newhouse, Ammar,Al-Chalabi

Acta neuropathologica communications · 2019-07-17

pmid:31315673

Marie,Ryan, Mark A,Doherty, Ahmad,Al Khleifat, Emmet,Costello, Jennifer C,Hengeveld, Mark,Heverin, Ammar,Al-Chalabi, Russell L,Mclaughlin, Orla,Hardiman

Neurology. Genetics · 2023-12-22

pmid:38149039

Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia.

Andrew G L,Douglas, Alexander G,Thompson, Martin R,Turner, Kevin,Talbot

BMJ neurology open · 2024-09-18

pmid:39315390

Checking your browser - reCAPTCHA

genereviews:NBK268647

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.

Karri,Kaivola, Ruth,Chia, Jinhui,Ding, Memoona,Rasheed, Masashi,Fujita, Vilas,Menon, Ronald L,Walton, Ryan L,Collins, Kimberley,Billingsley, Harrison,Brand, Michael,Talkowski, Xuefang,Zhao, Ramita,Dewan, Ali,Stark, Anindita,Ray, Sultana,Solaiman, Pilar,Alvarez Jerez, Laksh,Malik, Ted M,Dawson, Liana S,Rosenthal, Marilyn S,Albert, Olga,Pletnikova, Juan C,Troncoso, Mario,Masellis, Julia,Keith, Sandra E,Black, Luigi,Ferrucci, Susan M,Resnick, Toshiko,Tanaka, Eric,Topol, Ali,Torkamani, Pentti,Tienari, Tatiana M,Foroud, Bernardino,Ghetti, John E,Landers, Mina,Ryten, Huw R,Morris, John A,Hardy, Letizia,Mazzini, Sandra,D'Alfonso, Cristina,Moglia, Andrea,Calvo, Geidy E,Serrano, Thomas G,Beach, Tanis,Ferman, Neill R,Graff-Radford, Bradley F,Boeve, Zbigniew K,Wszolek, Dennis W,Dickson, Adriano,Chiò, David A,Bennett, Philip L,De Jager, Owen A,Ross, Clifton L,Dalgard, J Raphael,Gibbs, Bryan J,Traynor, Sonja W,Scholz

Cell genomics · 2023-05-04

pmid:37388914

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

Elisa,Majounie, Alan E,Renton, Kin,Mok, Elise G P,Dopper, Adrian,Waite, Sara,Rollinson, Adriano,Chiò, Gabriella,Restagno, Nayia,Nicolaou, Javier,Simon-Sanchez, John C,van Swieten, Yevgeniya,Abramzon, Janel O,Johnson, Michael,Sendtner, Roger,Pamphlett, Richard W,Orrell, Simon,Mead, Katie C,Sidle, Henry,Houlden, Jonathan D,Rohrer, Karen E,Morrison, Hardev,Pall, Kevin,Talbot, Olaf,Ansorge, Dena G,Hernandez, Sampath,Arepalli, Mario,Sabatelli, Gabriele,Mora, Massimo,Corbo, Fabio,Giannini, Andrea,Calvo, Elisabet,Englund, Giuseppe,Borghero, Gian Luca,Floris, Anne M,Remes, Hannu,Laaksovirta, Leo,McCluskey, John Q,Trojanowski, Vivianna M,Van Deerlin, Gerard D,Schellenberg, Michael A,Nalls, Vivian E,Drory, Chin-Song,Lu, Tu-Hsueh,Yeh, Hiroyuki,Ishiura, Yuji,Takahashi, Shoji,Tsuji, Isabelle,Le Ber, Alexis,Brice, Carsten,Drepper, Nigel,Williams, Janine,Kirby, Pamela,Shaw, John,Hardy, Pentti J,Tienari, Peter,Heutink, Huw R,Morris, Stuart,Pickering-Brown, Bryan J,Traynor

The Lancet. Neurology · 2012-03-09

pmid:22406228

STRipy - STRs database (C9ORF72 locus)

stripy:C9ORF72

Population-scale repeat expansions elucidate disease risk and brain atrophy.

Vijay Kumar,Pounraja, Jae Hoon,Sul, Joseph,Herman, Sean,O'Keeffe, Veera,Rajagopal, Xiaodong,Bai, Michael D,Kessler, Neelroop,Parikshak, Karl,Landheer, Xingmin,Zhang, Sean,Yu, Lance,Zhang, Michelle G,LeBlanc, Jennifer,Rico-Varela, Frederic,Grau, Sarah,Wolf, Sriramkumar,Sundaramoorthy, Farshid,Sepehrband, Eli A,Stahl, Yuda,Huo, Mohsin,Ahmed, Susan,Croll, William,Salerno, John D,Overton, Jonathan,Marchini, Jeffrey,Reid, Luca A,Lotta, Aris,Baras, Goncalo R,Abecasis, Giovanni,Coppola, Sahar,Gelfman

Nature · 2026-04-08

pmid:41951733

Relationship between C9orf72 repeat size and clinical phenotype.

Sara,Van Mossevelde, Julie,van der Zee, Marc,Cruts, Christine,Van Broeckhoven

Current opinion in genetics & development · 2017-03-17

pmid:28319737

Analysis of normal

Silvia,Peverelli, Alberto,Brusati, Valeria,Casiraghi, Marta Nice,Sorce, Sabrina,Invernizzi, Serena,Santangelo, Claudia,Morelli, Federico,Verde, Vincenzo,Silani, Nicola,Ticozzi, Antonia,Ratti

Amyotrophic lateral sclerosis & frontotemporal degeneration · 2024-01-23

pmid:38099605

C9orf72 and triplet repeat disorder RNAs: G-quadruplex formation, binding to PRC2 and implications for disease mechanisms.

Xueyin,Wang, Karen J,Goodrich, Erin G,Conlon, Jianchao,Gao, Annette H,Erbse, James L,Manley, Thomas R,Cech

RNA (New York, N.Y.) · 2019-05-02

pmid:31048495

Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion.

Evan,Udine, NiCole A,Finch, Mariely,DeJesus-Hernandez, Jazmyne L,Jackson, Matthew C,Baker, Siva Arumugam,Saravanaperumal, Eric,Wieben, Mark T W,Ebbert, Jaimin,Shah, Leonard,Petrucelli, Rosa,Rademakers, Björn,Oskarsson, Marka,van Blitterswijk

Molecular neurodegeneration · 2024-12-21

pmid:39709476

Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.

Zinan,Zhou, Junho,Kim, August Yue,Huang, Matthew,Nolan, Junseok,Park, Ryan,Doan, Taehwan,Shin, Michael B,Miller, Mingyun,Bae, Boxun,Zhao, Jinhyeong,Kim, Brian,Chhouk, Katherine,Morillo, Rebecca C,Yeh, Connor,Kenny, Jennifer E,Neil, Chao-Zong,Lee, Takuya,Ohkubo, John,Ravits, Olaf,Ansorge, Lyle W,Ostrow, Clotilde,Lagier-Tourenne, Eunjung Alice,Lee, Christopher A,Walsh

Nature genetics · 2026-04-15

pmid:41986690

Age-related penetrance of the C9orf72 repeat expansion.

Natalie A,Murphy, Karissa C,Arthur, Pentti J,Tienari, Henry,Houlden, Adriano,Chiò, Bryan J,Traynor

Scientific reports · 2017-05-18

pmid:28522837

Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progression.

Sebastian,Michels, Chaorong,Chen, Wolfgang P,Ruf, M Madhy,Garcia Garcia, Frederick J,Arnold, Zhuoxing,Wu, Craig L,Bennett, Daniel,Shams, Leslie M,Thompson, Alyssa C,Walker, Dennis W,Dickson, Leonard,Petrucelli, Johannes,Dorst, Mercedes,Prudencio, Wei,Li, Albert R,La Spada

The Journal of clinical investigation · 2026-06-01

pmid:42222887

C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.

Cláudia,Santos Silva, Marta,Gormicho, Sara,Simão, Ana Catarina,Pronto-Laborinho, Inês,Alves, Susana,Pinto, Miguel,Oliveira Santos, Mamede,de Carvalho

Journal of the neurological sciences · 2024-08-30

pmid:39226712

Systematic proteomics reveals plasma NEFL as a robust predictor and pathological associate in

Zhen,Hu, Jing-Jin,Wan, Qin-Qin,Yan, Yu,Fan, Jun,Liu

Frontiers in aging neuroscience · 2026-04-21

pmid:42095061

Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change.

Joan,Groeneveld, Sterre C M,de Boer, Welmoed,Krudop, Georgii,Ozhegov, Marc,Hulsman, Annemieke,Dols, Cora J,Kerssens, Sigfried,Schouws, Frederik,Barkhof, Henne,Holstege, Yolande A L,Pijnenburg, Sven J,Van Der Lee, Flora H,Duits

Neurology. Genetics · 2026-05-14

pmid:42158267

Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.

Rita,Sattler, Bryan J,Traynor, Janice,Robertson, Ludo,Van Den Bosch, Sami J,Barmada, Clive N,Svendsen, Matthew D,Disney, Tania F,Gendron, Philip C,Wong, Martin R,Turner, Adam,Boxer, Suma,Babu, Michael,Benatar, Michael,Kurnellas, Jonathan D,Rohrer, Christopher J,Donnelly, Lynette M,Bustos, Kendall,Van Keuren-Jensen, Penny A,Dacks, Marwan N,Sabbagh

Neurology and therapy · 2023-10-17

pmid:37847372

The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discovery.

Jack,Humphrey, Ali,Oku, Marta,Byrska-Bishop, Anna O,Basile, Uday S,Evani, André,Corvelo, Alex,Tokolyi, Kailash,Bp, Aline,Réal, Yebin,Kim, Marielle L,Bond, Wayne E,Clarke, Rui,Fu, Heather,Geiger, Sei,Chang, Tatsuhiko,Naito, Beomjin,Jang, Rajeeva,Musunuri, Winston H,Dredge, Rashid,Al-Abri, Benjamin N,Hoover, Dina,Manaa, Jaime,McClintock, Faith P,Singh, Maria H,Pedersen, Alexi,Runnels, Nadia,Propp, Samantha,Fennessey, Hong-Hee,Won, Michael C,Zody, Giuseppe,Narzisi, Nicolas,Robine, Tuuli,Lappalainen, Delphine,Fagegaltier, Gamze,Gürsoy, David A,Knowles, Towfique,Raj, Matthew B,Harms, Hemali,Phatnani

medRxiv : the preprint server for health sciences · 2026-05-04

pmid:42145639

24omim:105500

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.

Tania F,Gendron, Kevin F,Bieniek, Yong-Jie,Zhang, Karen,Jansen-West, Peter E A,Ash, Thomas,Caulfield, Lillian,Daughrity, Judith H,Dunmore, Monica,Castanedes-Casey, Jeannie,Chew, Danielle M,Cosio, Marka,van Blitterswijk, Wing C,Lee, Rosa,Rademakers, Kevin B,Boylan, Dennis W,Dickson, Leonard,Petrucelli

Acta neuropathologica · 2013-10-16

pmid:24129584

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.

Tao,Zu, Yuanjing,Liu, Monica,Bañez-Coronel, Tammy,Reid, Olga,Pletnikova, Jada,Lewis, Timothy M,Miller, Matthew B,Harms, Annet E,Falchook, S H,Subramony, Lyle W,Ostrow, Jeffrey D,Rothstein, Juan C,Troncoso, Laura P W,Ranum

Proceedings of the National Academy of Sciences of the United States of America · 2013-11-18

pmid:24248382

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.

Peter E A,Ash, Kevin F,Bieniek, Tania F,Gendron, Thomas,Caulfield, Wen-Lang,Lin, Mariely,Dejesus-Hernandez, Marka M,van Blitterswijk, Karen,Jansen-West, Joseph W,Paul, Rosa,Rademakers, Kevin B,Boylan, Dennis W,Dickson, Leonard,Petrucelli

Neuron · 2013-02-12

pmid:23415312

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

Kohji,Mori, Shih-Ming,Weng, Thomas,Arzberger, Stephanie,May, Kristin,Rentzsch, Elisabeth,Kremmer, Bettina,Schmid, Hans A,Kretzschmar, Marc,Cruts, Christine,Van Broeckhoven, Christian,Haass, Dieter,Edbauer

Science (New York, N.Y.) · 2013-02-07

pmid:23393093

Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTD.

Suzhou,Yang, Denethi,Wijegunawardana, Udit,Sheth, Austin M,Veire, Juliana M S,Salgado, Tanina,Arab, Manasi,Agrawal, Jeffrey,Zhou, João D,Pereira, Tania F,Gendron, Junjie U,Guo

Nature neuroscience · 2025-08-11

pmid:40790269

Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation.

Clare M,Wieland, Shannon E,Wright, Sydney,Willey, Ishita,Purwar, Samantha J,Grudzien, Amy,Krans, Erinn L,Laimon, Melissa J,Asher, Adrian M,Isaacs, Amanda L,Garner, Peter K,Todd

Nucleic acids research · 2026-09-07

pmid:42725432

CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro.

Katharina E,Meijboom, Abbas,Abdallah, Nicholas P,Fordham, Hiroko,Nagase, Tomás,Rodriguez, Carolyn,Kraus, Tania F,Gendron, Gopinath,Krishnan, Rustam,Esanov, Nadja S,Andrade, Matthew J,Rybin, Melina,Ramic, Zachary D,Stephens, Alireza,Edraki, Meghan T,Blackwood, Aydan,Kahriman, Nils,Henninger, Jean-Pierre A,Kocher, Michael,Benatar, Michael H,Brodsky, Leonard,Petrucelli, Fen-Biao,Gao, Erik J,Sontheimer, Robert H,Brown, Zane,Zeier, Christian,Mueller

Nature communications · 2022-10-21

pmid:36271076

Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide.

Hélène,Tran, Michael P,Moazami, Huiya,Yang, Diane,McKenna-Yasek, Catherine L,Douthwright, Courtney,Pinto, Jake,Metterville, Minwook,Shin, Nitasha,Sanil, Craig,Dooley, Ajit,Puri, Alexandra,Weiss, Nicholas,Wightman, Heather,Gray-Edwards, Miklos,Marosfoi, Robert M,King, Thomas,Kenderdine, Daniele,Fabris, Robert,Bowser, Jonathan K,Watts, Robert H,Brown

Nature medicine · 2021-12-23

pmid:34949835

Intrathecal (G

Katelyn A,Russell, Amelia A,Shahrabi, Suleyman C,Akerman, Matthew D,Byrne, Jeffrey D,Rothstein, Davide,Trotti, Brigid K,Jensen, Aaron R,Haeusler

Acta neuropathologica communications · 2026-06-18

pmid:42316301

pTDP-43 levels correlate with cell type-specific molecular alterations in the prefrontal cortex of

Hsiao-Lin V,Wang, Jian-Feng,Xiang, Chenyang,Yuan, Austin M,Veire, Tania F,Gendron, Melissa E,Murray, Malú G,Tansey, Jian,Hu, Marla,Gearing, Jonathan D,Glass, Peng,Jin, Victor G,Corces, Zachary T,McEachin

Proceedings of the National Academy of Sciences of the United States of America · 2025-02-25

pmid:39999167

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Mariely,DeJesus-Hernandez, Ian R,Mackenzie, Bradley F,Boeve, Adam L,Boxer, Matt,Baker, Nicola J,Rutherford, Alexandra M,Nicholson, NiCole A,Finch, Heather,Flynn, Jennifer,Adamson, Naomi,Kouri, Aleksandra,Wojtas, Pheth,Sengdy, Ging-Yuek R,Hsiung, Anna,Karydas, William W,Seeley, Keith A,Josephs, Giovanni,Coppola, Daniel H,Geschwind, Zbigniew K,Wszolek, Howard,Feldman, David S,Knopman, Ronald C,Petersen, Bruce L,Miller, Dennis W,Dickson, Kevin B,Boylan, Neill R,Graff-Radford, Rosa,Rademakers

Neuron · 2011-09-21

pmid:21944778

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation.

Vladimir L,Buchman, Johnathan,Cooper-Knock, Natalie,Connor-Robson, Adrian,Higginbottom, Janine,Kirby, Olga D,Razinskaya, Natalia,Ninkina, Pamela J,Shaw

Molecular neurodegeneration · 2013-04-08

pmid:23566336

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.

Mark T W,Ebbert, Stefan L,Farrugia, Jonathon P,Sens, Karen,Jansen-West, Tania F,Gendron, Mercedes,Prudencio, Ian J,McLaughlin, Brett,Bowman, Matthew,Seetin, Mariely,DeJesus-Hernandez, Jazmyne,Jackson, Patricia H,Brown, Dennis W,Dickson, Marka,van Blitterswijk, Rosa,Rademakers, Leonard,Petrucelli, John D,Fryer

Molecular neurodegeneration · 2018-08-21

pmid:30126445

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation.

Clare M,Wieland, Shannon E,Wright, Sydney,Willey, Ishita,Purwar, Samantha J,Grudzien, Amy,Krans, Erinn L,Laimon, Melissa J,Asher, Adrian M,Isaacs, Amanda L,Garner, Peter K,Todd

Nucleic acids research · 2026-09-07

pmid:42725432

Cognitive and behavioral manifestations of the C9orf72 mutation in Amyotrophic Lateral Sclerosis: an age, education, and gender-matched cohort study.

Seán,O'Farrell, Maria Christina,Holland, Colm,Peelo, Russell,McLaughlin, Mark,Heverin, Orla,Hardiman, Emmet,Costello, Niall,Pender

Amyotrophic lateral sclerosis & frontotemporal degeneration · 2026-08-28

pmid:42661580

Generation of two iPSC lines from ALS patients harboring C9orf72 hexanucleotide repeat expansions.

Dide,Wu, Ana,Kojic, Jay P,Ross, Dong,Li, Parker,Walther, Neelam,Goyal, Jacinda,Sampson, Joseph C,Wu

Stem cell research · 2026-08-22

pmid:42648119

Theory of mind impairment related to

Francesca,Palumbo, Barbara,Iazzolino, Antonio,Canosa, Umberto,Manera, Rosario,Vasta, Maurizio,Grassano, Enrico,Matteoni, Sara,Cabras, Alessandra,Maccabeo, Giorgio,Pellegrino, Filippo,Giai Merlera, Anastasia,Dei Giudici, Stefano,Callegaro, Luisa,Balz, Cristina,Moglia, Adriano,Chiò, Andrea,Calvo, Dorothée,Lulé

Amyotrophic lateral sclerosis & frontotemporal degeneration · 2026-08-24

pmid:42635322

Integrative synaptosome multi-omics reveals disrupted synapse organization and localized cryptic transcripts in

Ashton M,Spillman, Eric B,Alsop, Lauren M,Gittings, Krystine,Garcia-Mansfield, Ignazio,Piras, Anna,Bonfitto, Melissa N,Martinez, Ritin,Sharma, Kim R,Preller, Matthew,Huentelman, Patrick,Pirrotte, Kendall,Van Keuren-Jensen, Rita,Sattler

bioRxiv : the preprint server for biology · 2026-07-27

pmid:42619804

RAN Translation-Coupled Decay of the

You,Wu, Li,Li, Jing,Tian, Leilei,Liu, Kunzhao,Du, Zhicheng,Shao, Tianlin,Cheng, Xin,Cao, Tao,Wang

International journal of molecular sciences · 2026-08-04

pmid:42589639

Nucleolar integrity in isolated nucleoli is governed by electrostatic interactions and altered by disease-associated proteins.

Hiroaki,Suzuki, Mai,Takahashi, Tamami,Miyagi, Kohsuke,Kanekura

Biochemical and biophysical research communications · 2026-08-07

pmid:42570488

C9orf72-associated and sporadic FTD patient iPSC-microglia show differences in phagocytosis and gene expression.

Hannah,Rostalski, Tomi,Hietanen, Dorit,Hoffmann, Sami,Heikkinen, Nadine,Huber, Ashutosh,Dhingra, Salvador,Rodriguez-Nieto, Teemu,Kuulasmaa, Sohvi,Ohtonen, Henna,Jäntti, Viivi,Pekkala, Stina,Leskelä, Petra,Mäkinen, Kasper,Katisko, Päivi,Hartikainen, Šárka,Lehtonen, Eino,Solje, Jari,Koistinaho, Tarja,Malm, Anne M,Portaankorva, Teemu,Natunen, Henna,Martiskainen, Mari,Takalo, Mikko,Hiltunen, Annakaisa,Haapasalo

Stem cell reports · 2026-08-06

pmid:42561943

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Emma,Ehn, Håkan,Thonberg, Inger,Nennesmo, Anna,Lindstrand, Malin,Kvarnung, Caroline,Graff

Human molecular genetics · 2026-07-28

pmid:42561134

Locus FTDALS1 C9orf72

Disease

Locus

Alleles

gnomAD

References

Additional Literature