Cited by 143Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative DiseasesAlzheimer's disease research and treatments

The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

Lindquist, SG, Duno, M, Batbayli, M, Puschmann, A, Braendgaard, H, Mardosiene, S, Svenstrup, K, Pinborg, LH, Vestergaard, K, Hjermind, LE, Stokholm, J, Andersen, BB, Johannsen, P, Nielsen, JE·2013·Clinical Genetics

DOI 10.1111/j.1399-0004.2012.01903.x

Open this paper in CoChat — free account

Abstract

Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21‐linked frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS). We here report the prevalence of the expansion in a hospital‐based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studied 280 patients previously screened for mutations in genes involved in early onset autosomal dominant inherited dementia disorders. A repeat‐primed polymerase chain reaction amplification assay was used to identify pathogenic GGGGCC expansions. As a potential modifier, confirmed cases were further investigated for abnormal CAG expansions in ATXN2. A pathogenic GGGGCC expansion was identified in a total of 14 probands. Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS). Further, the pathogenic expansion was identified in six FTD patients, four patients with FTD‐ALS and one ALS patient. All confirmed cases had normal ATXN2 repeat sizes. Our study widens the clinical spectrum of C9ORF72 related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD‐ALS disorders. There was no indication of a modifying effect of the ATXN2 gene.

Integrity signals

Registry

Crossref · 10.1111/j.1399-0004.2012.01903.x

Cites

15 of 15 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
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 · cited 1×
“The expansion was identified in 46% of familial ALS and 21% of sporadic ALS in the Finnish population and in one third of familial ALS cases in an outbred European cohort (4, 5).”
Background
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
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Elden, A. C., Kim, H.-J., Hart, M. P., Chen‐Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R. A., Lu, M. M., et al. (2010) · Nature · doi:10.1038/nature09320 · Cited by 1,361
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70043-1 · Cited by 1,210
The prevalence of frontotemporal dementia
Ratnavalli, E., Brayne, C., Dawson, K. E., & Hodges, J. R. (2002) · Neurology · doi:10.1212/wnl.58.11.1615 · Cited by 1,182
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
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
Snowden, J. S., Rollinson, S., Thompson, J. C., Harris, J. M., Stopford, C. L., Richardson, A. M. T., Jones, M., Gerhard, A., Davidson, Y. S., Robinson, A., et al. (2012) · Brain · doi:10.1093/brain/awr355 · Cited by 523
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
Byrne, S., Elamin, M., Bede, P., Shatunov, A., Walsh, C., Corr, B., Heverin, M., Jordan, N., Kenna, K. P., Lynch, C. M., et al. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70014-5 · Cited by 483
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3
Vance, C. A., Al‐Chalabi, A., Ruddy, D., Smith, B. N., Hu, X., Sreedharan, J., Siddique, T., Schelhaas, H. J., Küsters, B., Troost, D., et al. (2006) · Brain · doi:10.1093/brain/awl030 · Cited by 392
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
Boeve, B. F., Boylan, K., Graff‐Radford, N. R., DeJesus‐Hernandez, M., Knopman, D. S., Pedraza, O., Vemuri, P., Jones, D. T., Lowe, V. J., Murray, M. E., et al. (2012) · Brain · doi:10.1093/brain/aws004 · Cited by 351

Show all 15 references

Sorted by citations

The phenotypic variability of amyotrophic lateral sclerosis
Swinnen, B., & Robberecht, W. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.184 · Cited by 647
The frontotemporal dementia-motor neuron disease continuum
Burrell, J. R., Halliday, G. M., Kril, J. J., Ittner, L. M., Götz, J., Kiernan, M. C., & Hodges, J. R. (2016) · The Lancet · doi:10.1016/s0140-6736(16)00737-6 · Cited by 384
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
Beck, J., Poulter, M., Hensman, D., Rohrer, J. D., Mahoney, C. J., Adamson, G., Campbell, T., Uphill, J., Borg, A., Fratta, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.01.011 · Cited by 345
Amyotrophic Lateral Sclerosis: An update for 2013 Clinical Features, Pathophysiology, Management and Therapeutic Trials
AP-HP, H. D. L. P.-S., & Gordon, P. (2013) · Aging and Disease · doi:10.14336/ad.2013.0400295 · Cited by 278
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
Waite, A. J., Bäumer, D., East, S. Z., Neal, J., Morris, H. R., Ansorge, O., & Blake, D. J. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.01.016 · Cited by 298
A Pan‐ E uropean Study of the C9orf72 Repeat Associated with FTLD : Geographic Prevalence, Genomic Instability, and Intermediate Repeats
van der Zee, J., Gijselinck, I., Dillen, L., Langenhove, T. V., Theuns, J., Engelborghs, S., Philtjens, S., Vandenbulcke, M., Sleegers, K., Sieben, A., et al. (2012) · Human Mutation · doi:10.1002/humu.22244 · Cited by 277
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations
Puschmann, A. (2013) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2013.01.020 · Cited by 249
Self-citation
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
Rohrer, J. D., Isaacs, A. M., Mizielinska, S., Mead, S., Lashley, T., Wray, S., Sidle, K. C. L., Fratta, P., Orrell, R. W., Hardy, J., et al. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70233-9 · Cited by 255
Autophagy and ALS: mechanistic insights and therapeutic implications
Chua, J. P., De Calbiac, H., Kabashi, E., & Barmada, S. J. (2022) · Autophagy · doi:10.1080/15548627.2021.1926656 · Cited by 189
C9orf72 expansion disrupts ATM-mediated chromosomal break repair
Walker, C., Herranz-Martín, S., Karyka, E., Liao, C., Lewis, K. E. A., Elsayed, W., Lukashchuk, V., Chiang, S., Ray, S., Mulcahy, P. J., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4604 · Cited by 194
Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
Mann, D. M., Rollinson, S., Robinson, A., Bennion Callister, J., Thompson, J. C., Snowden, J. S., Gendron, T., Petrucelli, L., Masuda-Suzukake, M., Hasegawa, M., et al. (2013) · Acta Neuropathologica Communications · doi:10.1186/2051-5960-1-68 · Cited by 182
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum
Cruts, M., Gijselinck, I., Langenhove, T. V., van der Zee, J., & Broeckhoven, C. V. (2013) · Trends in Neurosciences · doi:10.1016/j.tins.2013.04.010 · Cited by 170
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
Cooper‐Knock, J., Shaw, P. J., & Kirby, J. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1251-9 · Cited by 169
The clinical spectrum of sporadic and familial forms of frontotemporal dementia
Woollacott, I., & Rohrer, J. D. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13654 · Cited by 163
Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS
Yamakawa, M., Ito, D., Honda, T., Kubo, K., Noda, M., Nakajima, K., & Suzuki, N. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu576 · Cited by 154
C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation
Lall, D., Lorenzini, I., Mota, T. A., Bell, S., Mahan, T. E., Ulrich, J. D., Davtyan, H., Rexach, J. E., Muhammad, A. K. M. G., Shelest, O., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.05.020 · Cited by 147
Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population‐based case–control cohort study of familial and sporadic amyotrophic lateral sclerosis
Byrne, S., Heverin, M., Elamin, M., Bede, P., Lynch, C. M., Kenna, K. P., MacLaughlin, R., Walsh, C., Al‐Chalabi, A., & Hardiman, O. M. (2013) · Annals of Neurology · doi:10.1002/ana.23969 · Cited by 130
Relationship between C9orf72 repeat size and clinical phenotype
Mossevelde, S. V., van der Zee, J., Cruts, M., & Broeckhoven, C. V. (2017) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2017.02.008 · Cited by 128
“Atypical” atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy—A diagnostic guide
Stamelou, M., Quinn, N. P., & Bhatia, K. P. (2013) · Movement Disorders · doi:10.1002/mds.25509 · Cited by 122
Parkinsonism, movement disorders and genetics in frontotemporal dementia
Baizabal-Carvallo, J. F., & Jankovic, J. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.14 · Cited by 121
Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation
Galimberti, D., Fenoglio, C., Serpente, M., Villa, C., Bonsi, R., Arighi, A., Fumagalli, G., Bo, R. D., Bruni, A. C., Anfossi, M., et al. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.01.031 · Cited by 119
Neuropathology and emerging biomarkers in corticobasal syndrome
Koga, S., Josephs, K. A., Aiba, I., Yoshida, M., & Dickson, D. W. (2022) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2021-328586 · Cited by 115
Corticobasal degeneration and corticobasal syndrome: A review
Constantinides, V. C., Paraskevas, G. P., Paraskevas, P. G., Stefanis, L., & Kapaki, E. N. (2019) · Clinical Parkinsonism & Related Disorders · doi:10.1016/j.prdoa.2019.08.005 · Cited by 113
Parkinsonian syndrome in familial frontotemporal dementia
Siuda, J., Fujioka, S., & Wszolek, Z. K. (2014) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2014.06.004 · Cited by 96
Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS
Ogaki, K., Li, Y., Takanashi, M., Ishikawa, K., Kobayashi, T., Nonaka, T., Hasegawa, M., Kishi, M., Yoshino, H., Funayama, M., et al. (2012) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2012.06.019 · Cited by 96
Psychiatric Symptoms in Amyotrophic Lateral Sclerosis: Beyond a Motor Neuron Disorder
Zucchi, E., Ticozzi, N., & Mandrioli, J. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00175 · Cited by 85
Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability
Proudfoot, M. J., Gutowski, N. J., Edbauer, D., Hilton, D. A., Stephens, M., Rankin, J., & Mackenzie, I. R. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1245-7 · Cited by 79
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
Harms, M. B., Cady, J., Zaidman, C. M., Cooper, P., Bali, T., Allred, P., Cruchaga, C., Baughn, M. W., Libby, R. T., Pestronk, A., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.03.006 · Cited by 76
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment
Cacace, R., Van Cauwenberghe, C., Bettens, K., Gijselinck, I., van der Zee, J., Engelborghs, S., Vandenbulcke, M., Van Dongen, J., Bäumer, V., Dillen, L., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.12.019 · Cited by 74
Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration
Suh, E. R., Lee, E. B., Neal, D., Wood, E. M., Toledo, J. B., Rennert, L., Irwin, D. J., McMillan, C. T., Krock, B. L., Elman, L. B., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1445-9 · Cited by 72
Psychosis and Hallucinations in Frontotemporal Dementia with the C9ORF72 Mutation
Kertesz, A., Ang, L. C., Jesso, S., MacKinley, J. D., Baker, M. C., Brown, P., Shoesmith, C. L., Rademakers, R., & Finger, E. C. (2013) · Cognitive and Behavioral Neurology · doi:10.1097/wnn.0000000000000008 · Cited by 78
Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family With Hexanucleotide Repeat Expansions inC9orf72
Goldman, J. S., Quinzii, C. M., Dunning-Broadbent, J., Waters, C., Mitsumoto, H., Brannagan, T. H., Cosentino, S., Huey, E. D., Nagy, P. L., & Kuo, S. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2013.5762 · Cited by 73
New directions in clinical trials for frontotemporal lobar degeneration: methods and outcome measures
Boxer, A. L., Gold, M., Feldman, H., Boeve, B. F., Dickinson, S. L.-J., Fillit, H., Ho, C., Paul, R., Pearlman, R., Sutherland, M., et al. (2020) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2019.06.4956 · Cited by 71
Genetics and molecular mechanisms of frontotemporal lobar degeneration: an update and future avenues
Ferrari, R., Manzoni, C., & Hardy, J. (2019) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2019.02.006 · Cited by 74
Atypical parkinsonism
Stamelou, M., & Höglinger, G. U. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283632da6 · Cited by 68
The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues
Woollacott, I., & Mead, S. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1253-7 · Cited by 63
C9 ORF 72 expansion in a family with bipolar disorder
Meisler, M. H., Grant, A. E., Jones, J. M., Lenk, G. M., He, F., Todd, P. K., Kamali, M., Albin, R. L., Lieberman, A. P., Langenecker, S. A., et al. (2013) · Bipolar Disorders · doi:10.1111/bdi.12063 · Cited by 62
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion
Mossevelde, S. V., van der Zee, J., Gijselinck, I., Sleegers, K., Bleecker, J. D., Sieben, A., Vandenberghe, R. R., Langenhove, T. V., Baets, J., Deryck, O., et al. (2017) · JAMA Neurology · doi:10.1001/jamaneurol.2016.4847 · Cited by 62
Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain
Jaberi, E., Rohani, M., Shahidi, G. A., Nafissi, S., Arefian, E., Soleimani, M., Rasooli, P., Ahmadieh, H., Daftarian, N., Carrami, E. M., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.10.034 · Cited by 56
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature
Bourinaris, T., & Houlden, H. (2018) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12677 · Cited by 58
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis
Cooper‐Knock, J., Kirby, J., Highley, J. R., & Shaw, P. J. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0342-1 · Cited by 58
The Genetics of Monogenic Frontotemporal Dementia
Takada, L. T. (2015) · Dementia & Neuropsychologia · doi:10.1590/1980-57642015dn93000003 · Cited by 56
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism
Schottlaender, L., Polke, J. M., Ling, H., MacDoanld, N. D., Tucci, A., Nanji, T., Pittman, A. M., de Silva, R., Holton, J. L., Révész, T., et al. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.08.024 · Cited by 49
Looking beneath the surface: the importance of subcortical structures in frontotemporal dementia
Bocchetta, M., Malpetti, M., Todd, E. G., Rowe, J. B., & Rohrer, J. D. (2021) · Brain Communications · doi:10.1093/braincomms/fcab158 · Cited by 53
Phenotypic variability and its pathological basis in amyotrophic lateral sclerosis
Takeda, T., Kitagawa, K., & Arai, K. (2019) · Neuropathology · doi:10.1111/neup.12606 · Cited by 46
New generation genetic testing entering the clinic
Gorcenco, S., Ilinca, A., Almasoudi, W., Kafantari, E., Lindgren, A. G., & Puschmann, A. (2020) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2020.02.015 · Cited by 48
Self-citation
Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis
Häkkinen, S., Chu, S. A., & Lee, S. E. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105063 · Cited by 42
Sensory Involvement in Amyotrophic Lateral Sclerosis
Rubio, M. Á., Herrando‐Grabulosa, M., & Navarro, X. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232415521 · Cited by 48
Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C 9 ORF 72 hexanucleotide repeat expansion: a systematic neuropathological review
Schipper, L. J., Raaphorst, J., Aronica, E., Baas, F., de Haan, R. J., de Visser, M., & Troost, D. (2015) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12284 · Cited by 51
Parkinson disease is not associated with C9ORF72 repeat expansions
Harms, M. B., Neumann, D. A., Benítez, B. A., Cooper, B., Carrell, D., Racette, B. A., Perlmutter, J. S., Goate, A., & Cruchaga, C. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.10.001 · Cited by 43
The Genetics of C9orf72 ExpansionsPreprint
Gijselinck, I., Cruts, M., & Broeckhoven, C. V. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a026757 · Cited by 43
Clinical Neurogenetics
Harms, M. B., & Baloh, R. H. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.05.003 · Cited by 43
The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database
Marogianni, C., Rikos, D., Provatas, A., Dadouli, K., Ntellas, P., Tsitsi, P., Patrinos, G. P., Dardiotis, E., Hadjigeorgiou, G. M., & Xiromerisiou, G. (2019) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2019.04.012 · Cited by 41
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature
Wilke, C., Pomper, J. K., Biskup, S., Puskás, C., Berg, D., & Synofzik, M. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8021-7 · Cited by 43
Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients
Alavi, A., Nafissi, S., Rohani, M., Shahidi, G. A., Zamani, B., Shamshiri, H., Safari, I., & Elahi, E. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.07.016 · Cited by 38
Corticobasal degeneration: key emerging issues
Ali, F., & Josephs, K. A. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8644-3 · Cited by 40
Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease
Takada, L. T., & Sha, S. J. (2012) · Alzheimer s Research & Therapy · doi:10.1186/alzrt141 · Cited by 35
C9orf72 repeat expansions are restricted to the ALS-FTD spectrum
Ticozzi, N., Tiloca, C., Calini, D., Gagliardi, S., Altieri, A., Colombrita, C., Cereda, C., Ratti, A., Pezzoli, G., Borroni, B., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.09.037 · Cited by 33
ExpandedC9ORF72Hexanucleotide Repeat in Depressive Pseudodementia
Bieniek, K. F., van Blitterswijk, M., Baker, M., Petrucelli, L., Rademakers, R., & Dickson, D. W. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2013.6368 · Cited by 36
C9ORF72 Mutations in Neurodegenerative Diseases
Liu, Y., Yu, J., Zong, Y., Zhou, J., & Tan, L. (2013) · Molecular Neurobiology · doi:10.1007/s12035-013-8528-1 · Cited by 36
Clinical Phenotypes in Corticobasal Syndrome with or without Amyloidosis Biomarkers
Benvenutto, A., Guedj, É., Félician, O., Eusébio, A., Azulay, J., Ceccaldi, M. P., & Koric, L. (2020) · Journal of Alzheimer s Disease · doi:10.3233/jad-190961 · Cited by 34
Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity
McCombe, P., Wray, N. R., & Henderson, R. D. (2016) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2017.1273772 · Cited by 35
C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson’s disease complicated by psychosis or dementia in a Sardinian population
Cannas, A., Solla, P., Borghero, G., Floris, G., Chiò, A., Mascia, M. M., Modugno, N., Muroni, A., Orofino, G., Stefano, F. D., et al. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7873-6 · Cited by 32
Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis
Gasca‐Salas, C., Masellis, M., Khoo, E., Shah, B., Fisman, D. N., Lang, A. E., & Kleiner‐Fisman, G. (2016) · PLoS ONE · doi:10.1371/journal.pone.0153852 · Cited by 30
Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions
Scholz, S. W., Majounie, E., Révész, T., Holton, J. L., Okun, M. S., Houlden, H., & Singleton, A. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.08.033 · Cited by 29
Absence of C9ORF72 expanded or intermediate repeats in autopsy‐confirmed Parkinson's disease
Nuytemans, K., Inchausti, V., Beecham, G. W., Wang, L., Dickson, D. W., Trojanowski, J. Q., Lee, V. M. ‐., Mash, D. C., Frosch, M. P., Foroud, T., et al. (2014) · Movement Disorders · doi:10.1002/mds.25838 · Cited by 28
Structural insight into C9orf72 hexanucleotide repeat expansions: Towards new therapeutic targets in FTD-ALS
Kumar, V., Kashav, T., Islam, A., Ahmad, F., & Hassan, M. I. (2016) · Neurochemistry International · doi:10.1016/j.neuint.2016.08.008 · Cited by 28
Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review
Arienti, F., Lazzeri, G., Vizziello, M., Monfrini, E., Bresolin, N., Saetti, M. C., Picillo, M., Franco, G., & Fonzo, A. D. (2021) · Cells · doi:10.3390/cells10010171 · Cited by 29
Corticobasal syndrome: a practical guide
Wilson, D., Le Heron, C., & Anderson, T. (2021) · Practical Neurology · doi:10.1136/practneurol-2020-002835 · Cited by 25
C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases
de Souza, P. V. S., Pinto, W. B. V. D. R., & Oliveira, A. S. B. (2015) · Arquivos de Neuro-Psiquiatria · doi:10.1590/0004-282x20140229 · Cited by 26
C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.
Yokoyama, J. S., Sirkis, D. W., & Miller, B. L. (2014) · Europe PMC (PubMed Central) · Cited by 24
C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia
Fogel, B. L., Pribadi, M., Pi, S., Perlman, S., Geschwind, D. H., & Coppola, G. (2012) · Movement Disorders · doi:10.1002/mds.25245 · Cited by 22
New therapy options for amyotrophic lateral sclerosis
Gordon, P., Corcia, P., & Meininger, V. (2013) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.2013.819344 · Cited by 22
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing
Coutelier, M., Stévanin, G., & Brice, A. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7725-4 · Cited by 21
“Atypical” atypical parkinsonism: Critical appraisal of a cohort
Hirschbichler, S. T., Erro, R., Ganos, C., Stamelou, M., Batla, A., Balint, B., & Bhatia, K. P. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.12.006 · Cited by 21
C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?
Sellier, C., Corcia, P., Vourc’h, P., & Dupuis, L. (2024) · Revue Neurologique · doi:10.1016/j.neurol.2024.03.008 · Cited by 24
Pure cerebellar ataxia linked to large C9orf72 repeat expansion
Corcia, P., Vourc’h, P., Guennoc, A., Amador, M. D. M., Blasco, H., Andres, C. R., Couratier, P., Gordon, P. H., & Meininger, V. (2015) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2015.1113298 · Cited by 21
The genetic basis of multiple system atrophy
Tseng, F. S., Foo, J. Q. X., Mai, A. S., & Tan, E. (2023) · Journal of Translational Medicine · doi:10.1186/s12967-023-03905-1 · Cited by 26
C9orf72; abnormal RNA expression is the key
Heutink, P., Jansen, I. E., & Lynes, E. M. (2014) · Experimental Neurology · doi:10.1016/j.expneurol.2014.05.020 · Cited by 17
Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD
Mayl, K., Shaw, C. E., & Lee, Y. (2021) · Biomedicines · doi:10.3390/biomedicines9060601 · Cited by 18
Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.
Waldö, M. L., Gustafson, L., Nilsson, K. H., Traynor, B. J., Renton, A. E., Englund, E. M., & Passant, U. (2013) · Europe PMC (PubMed Central) · Cited by 17
C9ORF72 repeat expansions in Chinese patients with Parkinson’s disease and multiple system atrophy
Chen, X., Chen, Y., Wei, Q., Ou, R., Cao, B., Zhao, B., & Shang, H. (2016) · Journal of Neural Transmission · doi:10.1007/s00702-016-1598-2 · Cited by 17
Mutation analysis of C9orf72 in patients with corticobasal syndrome
Anor, C. J., Xi, Z., Zhang, M., Moreno, D., Sato, C., Rogaeva, E. A., & Tartaglia, M. C. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.06.008 · Cited by 17
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Cruts, M., Engelborghs, S., van der Zee, J., & Broeckhoven, C. V. (2015) · VUBIR (Vrije Universiteit Brussel) · Cited by 16
A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma
Ferrari, R., Kero, M., Mok, K. Y., Paetau, A. E., Tienari, P. J., Tynninen, O., Hardy, J., Momeni, P., Verkkoniemi‐Ahola, A., & Myllykangas, L. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.08.021 · Cited by 15
Parkinsonism and ataxia
Franco, G., Lazzeri, G., & Fonzo, A. D. (2021) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2021.120020 · Cited by 18
Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China
Wang, C., Zhao, C. N., Yang, F., Jiao, B., Peng, H., Shi, Y., Wang, Y., Huang, F., Wang, J., Shen, L. H., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0130336 · Cited by 13
[Induction of micronucleus by organophosphorus pesticides both in vivo and in vitro].
Ni, Z., Li, S., Liu, Y., Tang, Y., & Pang, D. (1993) · PubMed · Cited by 13
Underlying pathology identified after 20 years of disease course in two cases of slowly progressive frontotemporal dementia syndromes
Hokelekli, F. O., Whitwell, J. L., Machulda, M. M., Jones, D. T., Uitti, R. J., Pham, N. T. T., Giannini, C., Baker, M., Lowe, V. J., Dickson, D. W., et al. (2021) · Neurocase · doi:10.1080/13554794.2021.1918723 · Cited by 12
C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome
Hsiao, C.-T., Tsai, P., Liao, Y., Lee, Y., & Soong, B. (2014) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2014.10.042 · Cited by 12
Distinct neurological disorders with C9orf72 mutations: genetics, pathogenesis, and therapy
Chi, S., Jiang, T., Tan, L., & Yu, J. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.03.033 · Cited by 12
Genetic mimics of the non-genetic atypical parkinsonian disorders – the ‘atypical’ atypical
Giagkou, N., Bhatia, K. P., Höglinger, G. U., & Stamelou, M. (2019) · International review of neurobiology · doi:10.1016/bs.irn.2019.10.008 · Cited by 11
Molecular Genetics of Frontotemporal Dementia
Ferrari, R., Thumma, A., & Momeni, P. (2013) · Wiley eBooks · doi:10.1002/9780470015902.a0024457 · Cited by 11
C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients
König, T., Wurm, R., Parvizi, T., Silvaieh, S., Hotzy, C., Çetin, H., Klotz, S., Gelpí, E., Bancher, C., Benke, T., et al. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105927 · Cited by 11
Frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion
Ber, I. L. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.04.004 · Cited by 8
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation
Khani, M., Taheri, H., Shamshiri, H., Houlden, H., Efthymiou, S., Alavi, A., Nafissi, S., & Elahi, E. (2019) · American Journal of Medical Genetics. Part A · doi:10.1002/ajmg.a.61184 · Cited by 8
C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies
Geiger, J. T., Arthur, K. C., Dawson, T. M., Rosenthal, L. S., Pantelyat, A. Y., Albert, M., Hillis, A. E., Crain, B. J., Pletniková, O., Troncoso, J. C., et al. (2016) · Neurodegenerative Diseases · doi:10.1159/000445872 · Cited by 8
Genotypic and Phenotypic Heterogeneity in Amyotrophic Lateral Sclerosis
Ticozzi, N., & Silani, V. (2018) · Springer eBooks · doi:10.1007/978-3-319-72938-1_13 · Cited by 8
Progressive supranuclear palsy and corticobasal degeneration: Diagnostic challenges and clinicopathological considerations
Eusébio, A., Koric, L., Félician, O., Guedj, E., Ceccaldi, M. P., & Azulay, J. (2016) · Revue Neurologique · doi:10.1016/j.neurol.2016.07.009 · Cited by 7
C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity
Kaivola, K., Pirinen, M., Laaksovirta, H., Jansson, L., Rautila, O. S., Launes, J., Hokkanen, L., Lahti, J. M. T., Eriksson, J. G., Strandberg, T. E., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1087098 · Cited by 7

Authors: Lindquist, S., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, L., Vestergaard, K., Hjermind, L., Stokholm, J., Andersen, B., Johannsen, P., & Nielsen, J.
Affiliations: Department of Clinical Genetics 4062, Rigshospitalet, Copenhagen University Hospital Copenhagen Denmark
Copenhagen University Hospital (DK)
Skåne University Hospital (SE)
Department of Neurology Aarhus Sygehus, Aarhus University Hospital Aarhus Denmark
Bispebjerg Hospital (DK)
University of Copenhagen (DK)
Neurobiology Research Unit, Department of Neurology Rigshospitalet, Copenhagen University Hospital Copenhagen Denmark
Aalborg University Hospital (DK)
ORCID: Puschmann, A
Svenstrup, K
Johannsen, P
Venue: Clinical Genetics
Publisher: Wiley
Published: 2013-03
Volume: 83
Issue: 3
Pages: 279-283
ISSN: 0009-9163 (ISSN-L)
1399-0004
DOI: 10.1111/j.1399-0004.2012.01903.x
OpenAlex: W1763842383
Cited by: 143
References: 15
Citations by year: 2026: 2 · 2025: 1 · 2024: 3 · 2023: 5 · 2022: 7 · 2021: 13 · 2020: 4 · 2019: 9 · 2018: 6 · 2017: 9 · 2016: 15 · 2015: 18 · 2014: 18 · 2013: 23
FWCI: 13.54
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 49 d)
Locations: Clinical Genetics (publishedVersion)
PubMed (publishedVersion)
Lund University Publications (Lund University) (submittedVersion)
Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
VBN Forskningsportal (Aalborg Universitet) (submittedVersion)
Funders: Novo Nordisk Fonden (NNF11OC1014514)
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, GGGGCC repeat expansion, hexanucleotide repeat expansion, frontotemporal dementia, amyotrophic lateral sclerosis, corticobasal syndrome, ataxia, olivopontocerebellar degeneration, atypical parkinsonism, ATXN2, CAG repeat expansion, clinical spectrum, chromosome 9p21
MeSH terms: C9orf72 Protein, Adult, Aged, Amyotrophic Lateral Sclerosis, Ataxia, Base Sequence, Family Health, Female, Genetic Testing, Humans, Male, Middle Aged, Proteins, Syndrome, Cohort Studies, Genetic Predisposition to Disease, DNA Repeat Expansion, 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 ›

Are you an author, or do you see a problem with this page? Request a review

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks