Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Open accessAbstract
Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We used non-parametric linkage analysis and genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist. The expansion, which occurs in the poly(A) tail of an AluSx3 element and differs in both size and nucleotide sequence from the reference (AAAAG)11 allele, does not affect RFC1 expression in patient peripheral and brain tissue, suggesting no overt loss of function. These data, along with an expansion carrier frequency of 0.7% in Europeans, implies that biallelic AAGGG expansion in RFC1 is a frequent cause of late-onset ataxia.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Alternative repeat motifs occur in some tandem repeat expansion disorders, complicating detection.
“Alternative repeat motifs are found in some disorders associated with tandem repeat expansions26,27, which complicates identification”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [26]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Love, M. I., Huber, W., & Anders, S. (2014) · Genome Biology · doi:10.1186/s13059-014-0550-8 · Cited by 95,106 · see citing works
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works
STAR: ultrafast universal RNA-seq aligner
Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., & Gingeras, T. R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts635 · Cited by 51,709 · see citing works
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895 · see citing works
HTSeq—a Python framework to work with high-throughput sequencing data
Anders, S., Pyl, P. T., & Huber, W. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btu638 · Cited by 21,464 · see citing works
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247 · see citing works
Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1754 · Cited by 15,390 · see citing works
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works
MultiQC: summarize analysis results for multiple tools and samples in a single report
Ewels, P., Magnusson, M., Lundin, S., & Käller, M. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw354 · Cited by 10,143 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
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., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · see citing works
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409 · see citing works
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323 · see citing works
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786 · see citing works
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-221 · Cited by 1,753 · see citing works
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics · doi:10.1038/ng0793-221 · Cited by 1,632 · see citing works
Griffiths‐Jones, S. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg006 · Cited by 1,574 · see citing works
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
Züchner, S., Mersiyanova, I. V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., et al. (2004) · Nature Genetics · doi:10.1038/ng1341 · Cited by 1,572 · see citing works
Detecting differential usage of exons from RNA-seq data
Anders, S., Reyes, A., & Huber, W. (2012) · Genome Research · doi:10.1101/gr.133744.111 · Cited by 1,545 · see citing works
LUMPY: a probabilistic framework for structural variant discovery
Layer, R. M., Chiang, C., Quinlan, A. R., & Hall, I. M. (2014) · Genome biology · doi:10.1186/gb-2014-15-6-r84 · Cited by 1,510 · see citing works
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
Lupski, J. R., Montes‐de‐Oca‐Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Cárdenas, O. S., Barker, D. F., Killian, J. M., Garcia, C. A., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90613-4 · Cited by 1,333 · see citing works
g:Profiler—a web server for functional interpretation of gene lists (2016 update)
Reimand, J., Arak, T., Adler, P., Kolberg, L., Reisberg, S., Peterson, H., & Vilo, J. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw199 · Cited by 1,229 · see citing works
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
Pulst, S.-M., Nechiporuk, A. V., Nechiporuk, T., Gispert, S., Chen, X., Lopes‐Cendes, Í., Pearlman, S., Starkman, S., Díaz, G. O., Lunkes, A., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-269 · Cited by 1,113 · see citing works
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A., & Koenig, M. (1996) · New England Journal of Medicine · doi:10.1056/nejm199610173351601 · Cited by 1,071 · see citing works
Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. O., Bone, L. J., Paul, D. L., CHEN, K., Lensch, M. W., Chance, P. F., & Fischbeck, K. H. (1993) · Science · doi:10.1126/science.8266101 · Cited by 1,064 · see citing works
Histone H2AX phosphorylation: a marker for DNA damage.
Sharma, A., Singh, K., & Almasan, A. (2012) · Methods in molecular biology · doi:10.1007/978-1-61779-998-3_40 · Cited by 679 · see citing works
Deininger, P. L. (2011) · Genome biology · doi:10.1186/gb-2011-12-12-236 · Cited by 652 · see citing works
H2AX Phosphorylation: Its Role in DNA Damage Response and Cancer Therapy
Podhorecka, M., Składanowski, A., & Bozko, P. M. (2010) · Journal of Nucleic Acids · doi:10.4061/2010/920161 · Cited by 614 · see citing works
RBPmap: a web server for mapping binding sites of RNA-binding proteins
Paz, I., Kosti, I., Ares, M., Cline, M., & Mandel‐Gutfreund, Y. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku406 · Cited by 583 · see citing works
Repeat expansion disease: progress and puzzles in disease pathogenesis
Spada, A. R. L., & Taylor, J. P. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2748 · Cited by 479 · see citing works
Paulson, H. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00009-9 · Cited by 426 · see citing works
Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
Murphy, S. M., Laurá, M., Fawcett, K. A., Pandraud, A., Liu, Y., Davidson, G. L., Rossor, A. M., Polke, J. M., Castleman, V., Manji, H., et al. (2012) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-302451 · Cited by 379 · see citing works
Self-citationCharcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
Hayasaka, K., Himoro, M., Sato, W., et al. (1993) · Nature Genetics · doi:10.1038/ng0993-31 · Cited by 370 · see citing works
Fridman, V., Bundy, B. N., Reilly, M. M., et al. (2014) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2014-308826 · Cited by 352 · see citing works
Self-citationThe PCNA–RFC Families of DNA Clamps and Clamp Loaders
Majka, J., & Burgers, P. (2004) · Progress in nucleic acid research and molecular biology · doi:10.1016/s0079-6603(04)78006-x · Cited by 328 · see citing works
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Ishiura, H., Doi, K., Mitsui, J., Yoshimura, J., Matsukawa, M. K., Fujiyama, A., Toyoshima, Y., Kakita, A., Takahashi, H., Suzuki, Y., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0067-2 · Cited by 322 · see citing works
The aetiology of sporadic adult‐onset ataxia
Abele, M., Bürk, K., Schöls, L. J., Schwartz, S., Besenthal, I., DICHGANS, J., Zühlke, C., Rieß, O., & Klockgether, T. (2002) · Brain · doi:10.1093/brain/awf107 · Cited by 233 · see citing works
Maintaining genome stability in the nervous system
McKinnon, P. J. (2013) · Nature Neuroscience · doi:10.1038/nn.3537 · Cited by 229 · see citing works
Aneichyk, T., Hendriks, W. T. J., Yadav, R., Shin, D. S., Gao, D., Vaine, C. A., Collins, R. L., Domingo, A., Currall, B., Stortchevoi, A., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.011 · Cited by 226 · see citing works
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
Haeusler, A. R., Donnelly, C. J., & Rothstein, J. D. (2016) · Nature reviews. Neuroscience · doi:10.1038/nrn.2016.38 · Cited by 205 · see citing works
Sghirlanzoni, A., Pareyson, D., & Lauria, G. (2005) · The Lancet Neurology · doi:10.1016/s1474-4422(05)70096-x · Cited by 173 · see citing works
Migliaccio, A. A. (2004) · Brain · doi:10.1093/brain/awh030 · Cited by 165 · see citing works
Seixas, A. I., Loureiro, J. R., Costa, C., Ordóñez‐Ugalde, A., Marcelino, H., Oliveira, C. L., Loureiro, J. L., Dhingra, A., Brandão, E., Cruz, V. T., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.007 · Cited by 148 · see citing works
‘Idiopathic’ late onset cerebellar ataxia
Harding, A. E. (1981) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(81)90104-0 · Cited by 139 · see citing works
Szmulewicz, D. J., Roberts, L. J., McLean, C., MacDougall, H. G., Halmagyi, G. M., & Storey, E. (2016) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000000215 · Cited by 139 · see citing works
Hommelsheim, C. M., Frantzeskakis, L., Huang, M., & Ülker, B. (2014) · Scientific Reports · doi:10.1038/srep05052 · Cited by 135 · see citing works
Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS
Szmulewicz, D. J., McLean, C., Rodriguez, M. L., Chancellor, A. M., Mossman, S., Lamont, D. L., Roberts, L. J., Storey, E., & Waterston, J. A. (2014) · Neurology · doi:10.1212/wnl.0000000000000352 · Cited by 127 · see citing works
Intron retention induced by microsatellite expansions as a disease biomarker
Sznajder, Ł. J., Thomas, J. D., Carrell, E. M., Reid, T. S., McFarland, K. N., Cleary, J. D., Oliveira, R., Nutter, C. A., Bhatt, K. S., Sobczak, K., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1716617115 · Cited by 121 · see citing works
Mutations inMMEcause an autosomal‐recessive Charcot–Marie–Tooth disease type 2
Higuchi, Y., Hashiguchi, A., Yuan, J., Yoshimura, A., Mitsui, J., Ishiura, H., Tanaka, M., Ishihara, S., Tanabe, H., Nozuma, S., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24612 · Cited by 104 · see citing works
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
Manole, A., Jaunmuktane, Z., Hargreaves, I. P., Ludtmann, M. H. R., Salpietro, V., Bello, O. D., Pope, S. A. S., Pandraud, A., Horga, A., Scalco, R., et al. (2017) · Brain · doi:10.1093/brain/awx231 · Cited by 97 · see citing works
Self-citationWu, T. Y., Taylor, J. M., Kilfoyle, D. H., et al. (2014) · Brain · doi:10.1093/brain/awu196 · Cited by 92 · see citing works
Frataxin levels in peripheral tissue in Friedreich ataxia
Lazaropoulos, M. P., Dong, Y., Clark, E. M., Greeley, N. R., Seyer, L. A., Brigatti, K. W., Christie, C., Perlman, S., Wilmot, G. R., Gomez, C. M., et al. (2015) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.225 · Cited by 77 · see citing works
Processing of nerve biopsies: A practical guide for neuropathologists
Weis, J., Brandner, S., Lammens, M. M. Y., Sommer, C., & Vallat, J. (2011) · Clinical Neuropathology · doi:10.5414/np300468 · Cited by 74 · see citing works
Population based study of late onset cerebellar ataxia in south east Wales
Muzaimi, M. B. (2004) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2003.014662 · Cited by 74 · see citing works
Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome
Szmulewicz, D. J., Merchant, S. N., & Halmagyi, G. M. (2011) · Otology & Neurotology · doi:10.1097/mao.0b013e318210b719 · Cited by 70 · see citing works
Kirchner, H., Kremmyda, O., Hüfner, K., Stephan, T., Zingler, V. C., Brandt, T., Jahn, K., & Strupp, M. L. (2011) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2011.06175.x · Cited by 66 · see citing works
Overmeer, R., Gourdin, A. M., Giglia‐Mari, G., Kool, H., Houtsmuller, A. B., Siegal, G., Fousteri, M. I., Mullenders, L. H. F., & Vermeulen, W. (2010) · Molecular and Cellular Biology · doi:10.1128/mcb.00285-10 · Cited by 63 · see citing works
Infante, J., y García, A. G., Serrano-Cárdenas, K. M., Aguado, R. G., Gazulla, J., de Lucas, E. M., & Berciano, J. (2018) · Journal of Neurology · doi:10.1007/s00415-018-8872-1 · Cited by 60 · see citing works
Strupp, M. L., Feil, K., Dieterich, M., et al. (2016) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63437-5.00017-0 · Cited by 58 · see citing works
Gebus, O., Montaut, S., Monga, B., Wirth, T., Chéraud, C., Rego, C. A. D., Zinchenko, I., Carré, G., Hamdaoui, M., Hautecloque, G., et al. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8500-5 · Cited by 44 · see citing works
Pelosi, L., Mulroy, E., Leadbetter, R., et al. (2018) · European Journal of Neurology · doi:10.1111/ene.13563 · Cited by 44 · see citing works
DNA Damage-induced Ubiquitylation of RFC2 Subunit of Replication Factor C Complex
Tomida, J., Masuda, Y., Hiroaki, H., Ishikawa, T., Song, I. Y., Tsurimoto, T., Tateishi, S., Shiomi, T., Kamei, Y., Kim, J., et al. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m709835200 · Cited by 35 · see citing works
Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS)
Pelosi, L., Leadbetter, R., Mulroy, E., et al. (2016) · Muscle & Nerve · doi:10.1002/mus.25476 · Cited by 25 · see citing works
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)
Taki, M., Nakamura, T., Matsuura, H., et al. (2017) · Auris Nasus Larynx · doi:10.1016/j.anl.2017.10.008 · Cited by 22 · see citing works
Cazzato, D., Bella, E. D., Dacci, P., et al. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7951-9 · Cited by 19 · see citing works
VEMPs in a patient with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS)
Rust, H. M., Peters, N., Allum, J. H. J., et al. (2017) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2017.04.029 · Cited by 19 · see citing works
Mutations in MME Cause an Autosomal-Recessive Charcot-Marie-Tooth Disease Type 2
樋口, 雄., & ヒグチ, ユ. (2016) · Kagoshima University Repository · Cited by 11 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- [58]Dubowitz V, Sewry CA & Oldfors A Muscle Biopsy: a Practical Approach (Elsevier, 2013).
Cited by
Sorted by citations
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Depienne, C., & Mandel, J.-L. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.011 · Cited by 429 · see citing works
Molecular mechanisms underlying nucleotide repeat expansion disorders
Malik, I., Kelley, C. P., Wang, E. T., & Todd, P. K. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00382-6 · Cited by 363 · see citing works
Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.016 · Cited by 262 · see citing works
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
Khristich, A. N., & Mirkin, S. M. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.rev119.007678 · Cited by 289 · see citing works
Genome-wide detection of tandem DNA repeats that are expanded in autism
Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature · doi:10.1038/s41586-020-2579-z · Cited by 238 · see citing works
Neurologic examination in the elderly
(2019) · Handbook of Clinical Neurology · doi:10.1016/b978-0-12-804766-8.00005-4 · Cited by 33 · see citing works
Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature
Mandia, D., Shor, N., Carlson, A. K., Obusez, E., Cohen, J. A., Fenu, S., Salsano, E., La Piana, R., Durães, J., Faustino, P., et al. (2025) · Multiple Sclerosis and Related Disorders · doi:10.1016/j.msard.2025.106439 · Cited by 9 · see citing works
The genetic architecture of pentanucleotide repeat variation and disease association
Xu, I. R. L., Pellerin, D., Van De Vondel, L., Weisburd, B., Dolzhenko, E., Danzi, M. C., & Zuchner, S. (2026) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2026.09.017
Self-citation
- Authors
- Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., Ilyas, M., Tribollet, E., Tomaselli, P. J., Devigili, G., Callegari, I., Versino, M., Salpietro, V., Efthymiou, S., Kaski, D., Wood, N. W., Andrade, N. S., Buglo, E., Rebelo, A., Rossor, A. M., Bronstein, A., Fratta, P., Marques, W. J., Züchner, S., Reilly, M. M., & Houlden, H.
- Affiliations
- National Hospital for Neurology and Neurosurgery (GB)
- International Islamic University, Islamabad (PK)
- Universidade de São Paulo (BR)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University of Pavia (IT)
- University of Miami (US)
- Corresponding author
- Cortese, Andrea
- ORCID
- Cortese, Andrea
- Simone, Roberto
- Sullivan, Roisin
- Tariq, Huma
- Yau, Wai Yan
- Humphrey, Jack
- Jaunmuktane, Zane
- Polke, James
- Ilyas, Muhammad
- Tomaselli, Pedro J.
- Devigili, Grazia
- Callegari, Ilaria
- Versino, Maurizio
- Salpietro, Vincenzo
- Efthymiou, Stephanie
- Kaski, Diego
- Buglo, Elena
- Rebelo, Adriana
- Rossor, Alexander M.
- Bronstein, Adolfo
- Fratta, Pietro
- Marques, Wilson J.
- Reilly, Mary M.
- Houlden, Henry
- Venue
- Nature Genetics
- Published
- 2019-03-29
- Volume
- 51
- Issue
- 4
- Pages
- 649-658
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC6709527
- OpenAlex
- W2933273758
- Cited by
- 575
- References
- 68
- Citations by year
- 2026: 58 · 2025: 87 · 2024: 101 · 2023: 83 · 2022: 78 · 2021: 69 · 2020: 67 · 2019: 30
- FWCI
- 29.38
- Type
- journal article
- Language
- en
- Update notices
- correction (2019-04-26)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- IrInSubria (University of Insubria) (submittedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion, other-oa)
- Funders
- Wellcome Trust (110043/Z/15/Z, 165908, 104033/Z/14/Z, 204841/Z/16/Z)
- Brain Research UK
- National Institute for Health and Care Research (NF-SI-0515-10082)
- Ataxia UK
- Motor Neurone Disease Association (Fratta/Mar19/951-795, FRATTA/JAN15/946-795)
- Rosetrees Trust
- Medical Research Council (MR/J004758/1, MR/S006508/1, MR/N004272/1, MR/S01165X/1, 1936823, MR/M008606/1)
- National Institute of Neurological Disorders and Stroke (R01NS075764, U54NS065712, R01NS072248)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- RFC1, late-onset ataxia, trinucleotide repeat disorders, carrier frequency, loss of function
- MeSH terms
- Whole Genome Sequencing, Adult, Aged, Alleles, Ataxia, Cerebellar Ataxia, Humans, Introns, Male, Middle Aged, Repetitive Sequences, Nucleic Acid, Replication Protein C
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 ›
Are you an author, or do you see a problem with this page? Request a review
