C9orf72

Summary

Gene Symbol: C9orf72
Description: chromosome 9 open reading frame 72
Alias: ALSFTD, DENNL72, FTDALS, FTDALS1, guanine nucleotide exchange C9orf72, protein C9orf72
Species: human
Products:     C9orf72

Top Publications

  1. Cacace R, Van Cauwenberghe C, Bettens K, Gijselinck I, van der Zee J, Engelborghs S, et al. C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment. Neurobiol Aging. 2013;34:1712.e1-7 pubmed publisher
    b>C9orf72 G4C2 repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Its role in Alzheimer's disease (AD) is less clear...
  2. Gallagher M, Suh E, Grossman M, Elman L, McCluskey L, van Swieten J, et al. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol. 2014;127:407-18 pubmed publisher
    Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common genetic cause of both ..
  3. Stewart H, Rutherford N, Briemberg H, Krieger C, Cashman N, Fabros M, et al. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol. 2012;123:409-17 pubmed publisher
    ..a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  4. van Blitterswijk M, Mullen B, Nicholson A, Bieniek K, Heckman M, Baker M, et al. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol. 2014;127:397-406 pubmed publisher
    ..whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions...
  5. Proudfoot M, Gutowski N, Edbauer D, Hilton D, Stephens M, Rankin J, et al. Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability. Acta Neuropathol. 2014;127:451-8 pubmed publisher
    ..The C9ORF72 mutation is the most common cause of familial FTD, recent pathological descriptions challenge existing TDP-43 ..
  6. Fratta P, Mizielinska S, Nicoll A, Zloh M, Fisher E, Parkinson G, et al. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep. 2012;2:1016 pubmed publisher
    Large expansions of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  7. Liu Y, Yu J, Sun F, Ou J, Qu S, Tan L. The clinical and pathological phenotypes of frontotemporal dementia with C9ORF72 mutations. J Neurol Sci. 2013;335:26-35 pubmed publisher
    An expanded hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72), on chromosome 9p21, has recently been identified as a major cause of familial frontotemporal dementia (FTD)...
  8. Jones A, Woollacott I, Shatunov A, Cooper Knock J, Buchman V, Sproviero W, et al. Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat. Neurobiol Aging. 2013;34:2234.e1-7 pubmed publisher
    ..Single-nucleotide polymorphism rs3849942 is associated with ALS, tagging a hexanucleotide repeat mutation in the C9orf72 gene...
  9. Williams K, Fifita J, Vucic S, Durnall J, Kiernan M, Blair I, et al. Pathophysiological insights into ALS with C9ORF72 expansions. J Neurol Neurosurg Psychiatry. 2013;84:931-5 pubmed publisher
    Expansions of a hexanucleotide repeat in C9ORF72 are a common cause of familial amyotrophic lateral sclerosis (ALS) and a small proportion of sporadic ALS cases...
  10. Beck J, Poulter M, Hensman D, Rohrer J, Mahoney C, Adamson G, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet. 2013;92:345-53 pubmed publisher
    Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS)...

Detail Information

Publications86

  1. Cacace R, Van Cauwenberghe C, Bettens K, Gijselinck I, van der Zee J, Engelborghs S, et al. C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment. Neurobiol Aging. 2013;34:1712.e1-7 pubmed publisher
    b>C9orf72 G4C2 repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Its role in Alzheimer's disease (AD) is less clear...
  2. Gallagher M, Suh E, Grossman M, Elman L, McCluskey L, van Swieten J, et al. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol. 2014;127:407-18 pubmed publisher
    Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common genetic cause of both ..
  3. Stewart H, Rutherford N, Briemberg H, Krieger C, Cashman N, Fabros M, et al. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol. 2012;123:409-17 pubmed publisher
    ..a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  4. van Blitterswijk M, Mullen B, Nicholson A, Bieniek K, Heckman M, Baker M, et al. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol. 2014;127:397-406 pubmed publisher
    ..whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions...
  5. Proudfoot M, Gutowski N, Edbauer D, Hilton D, Stephens M, Rankin J, et al. Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability. Acta Neuropathol. 2014;127:451-8 pubmed publisher
    ..The C9ORF72 mutation is the most common cause of familial FTD, recent pathological descriptions challenge existing TDP-43 ..
  6. Fratta P, Mizielinska S, Nicoll A, Zloh M, Fisher E, Parkinson G, et al. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep. 2012;2:1016 pubmed publisher
    Large expansions of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  7. Liu Y, Yu J, Sun F, Ou J, Qu S, Tan L. The clinical and pathological phenotypes of frontotemporal dementia with C9ORF72 mutations. J Neurol Sci. 2013;335:26-35 pubmed publisher
    An expanded hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72), on chromosome 9p21, has recently been identified as a major cause of familial frontotemporal dementia (FTD)...
  8. Jones A, Woollacott I, Shatunov A, Cooper Knock J, Buchman V, Sproviero W, et al. Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat. Neurobiol Aging. 2013;34:2234.e1-7 pubmed publisher
    ..Single-nucleotide polymorphism rs3849942 is associated with ALS, tagging a hexanucleotide repeat mutation in the C9orf72 gene...
  9. Williams K, Fifita J, Vucic S, Durnall J, Kiernan M, Blair I, et al. Pathophysiological insights into ALS with C9ORF72 expansions. J Neurol Neurosurg Psychiatry. 2013;84:931-5 pubmed publisher
    Expansions of a hexanucleotide repeat in C9ORF72 are a common cause of familial amyotrophic lateral sclerosis (ALS) and a small proportion of sporadic ALS cases...
  10. Beck J, Poulter M, Hensman D, Rohrer J, Mahoney C, Adamson G, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet. 2013;92:345-53 pubmed publisher
    Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS)...
  11. Majounie E, Abramzon Y, Renton A, Keller M, Traynor B, Singleton A. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging. 2012;33:2527.e1-2 pubmed publisher
    ..We sought to determine the contribution of C9orf72 repeat expansions, recently discovered as a cause of frontotemporal dementia and amyotrophic lateral sclerosis, ..
  12. Kohli M, John Williams K, Rajbhandary R, Naj A, Whitehead P, Hamilton K, et al. Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians. Neurobiol Aging. 2013;34:1519.e5-12 pubmed publisher
    Recently, a hexanucleotide repeat expansion in the C9ORF72 gene has been identified to account for a significant portion of Caucasian families affected by frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)...
  13. Konno T, Shiga A, Tsujino A, Sugai A, Kato T, Kanai K, et al. Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J Neurol Neurosurg Psychiatry. 2013;84:398-401 pubmed publisher
    A GGGGCC hexanucleotide repeat expansion in C9ORF72 occurs on a chromosome 9p21 locus that is linked with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in white populations...
  14. Khan B, Yokoyama J, Takada L, Sha S, Rutherford N, Fong J, et al. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. J Neurol Neurosurg Psychiatry. 2012;83:358-64 pubmed publisher
    ..Here, two patients with bvFTD-SP with chromosome 9 open reading frame 72 (C9ORF72) hexanucleotide expansions are described...
  15. Cerami C, Marcone A, Galimberti D, Zamboni M, Fenoglio C, Serpente M, et al. Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9. J Alzheimers Dis. 2013;35:455-62 pubmed publisher
    b>C9ORF72 repeat expansion is currently considered as a major genetic cause of amyotrophic lateral sclerosis (ALS) and, in particular, of combined frontotemporal dementia-motor neuron disorder (FTD-MND) pedigrees...
  16. Rutherford N, Heckman M, DeJesus Hernandez M, Baker M, Soto Ortolaza A, Rayaprolu S, et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging. 2012;33:2950.e5-7 pubmed publisher
    Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)...
  17. Boeve B, Boylan K, Graff Radford N, DeJesus Hernandez M, Knopman D, Pedraza O, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012;135:765-83 pubmed publisher
    ..While variability exists, most cases with this mutation have a characteristic spectrum of demographic, clinical, neuropsychological, neuroimaging and especially neuropathological findings. ..
  18. van Es M, Veldink J, Saris C, Blauw H, Van Vught P, Birve A, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009;41:1083-7 pubmed publisher
    ..01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees. ..
  19. Mori K, Lammich S, Mackenzie I, Forne I, Zilow S, Kretzschmar H, et al. hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol. 2013;125:413-23 pubmed publisher
    Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the regulatory region of the gene C9orf72 as the most common cause of familial amyotrophic lateral sclerosis and the second most common cause of frontotemporal ..
  20. Ferrari R, Mok K, Moreno J, Cosentino S, Goldman J, Pietrini P, et al. Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging. 2012;33:1850.e1-11 pubmed publisher
    In the present study we aimed to determine the prevalence of C9ORF72 GGGGCC hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls...
  21. Millecamps S, Boillee S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J Med Genet. 2012;49:258-63 pubmed publisher
    Expanded GGGGCC hexanucleotide repeats in the promoter of the C9ORF72 gene have recently been identified in frontotemporal dementia (FTD), Amyotrophic Lateral Sclerosis (ALS) and ALS-FTD and appear as the most common genetic cause of ..
  22. Rollinson S, Halliwell N, Young K, Callister J, Toulson G, Gibbons L, et al. Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease. Neurobiol Aging. 2012;33:1846.e5-6 pubmed publisher
    ..most common genetic cause of FTLD and amyotrophic lateral sclerosis (ALS) is a hexanucleotide repeat expansion in C9ORF72. To investigate whether this expansion was specific to the FTLD/ALS disease spectrum, we genotyped the ..
  23. Harms M, Benítez B, Cairns N, Cooper B, Cooper P, Mayo K, et al. C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA Neurol. 2013;70:736-41 pubmed publisher
    Hexanucleotide repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene underlie a significant fraction of frontotemporal dementia and amyotrophic lateral sclerosis...
  24. van Blitterswijk M, DeJesus Hernandez M, Niemantsverdriet E, Murray M, Heckman M, Diehl N, et al. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol. 2013;12:978-88 pubmed publisher
    Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are the most common known genetic cause of frontotemporal dementia (FTD) and motor neuron disease (MND)...
  25. Lagier Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li H, et al. Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A. 2013;110:E4530-9 pubmed publisher
    Expanded hexanucleotide repeats in the chromosome 9 open reading frame 72 (C9orf72) gene are the most common genetic cause of ALS and frontotemporal degeneration (FTD)...
  26. Hosler B, Siddique T, Sapp P, Sailor W, Huang M, Hossain A, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA. 2000;284:1664-9 pubmed
    ..Crossover analysis indicates this region covers approximately 17 cM. These data suggest that a defective gene located in the chromosome 9q21-q22 region may be linked to ALS with FTD. JAMA. 2000;284:1664-1669. ..
  27. Whitwell J, Weigand S, Boeve B, Senjem M, Gunter J, DeJesus Hernandez M, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain. 2012;135:794-806 pubmed publisher
    ..A major recent discovery was the identification of an expansion of a non-coding GGGGCC hexanucleotide repeat in the C9ORF72 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis...
  28. Simon Sanchez J, Dopper E, Cohn Hokke P, Hukema R, Nicolaou N, Seelaar H, et al. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain. 2012;135:723-35 pubmed publisher
    ..Recently, a hexanucleotide repeat expansion in C9orf72 was identified as a major cause of both sporadic and familial frontotemporal dementia and amyotrophic lateral ..
  29. van Blitterswijk M, Mullen B, Heckman M, Baker M, DeJesus Hernandez M, Brown P, et al. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging. 2014;35:2421.e13-7 pubmed publisher
    Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are an important cause of both motor neuron disease (MND) and frontotemporal dementia (FTD)...
  30. Gendron T, Belzil V, Zhang Y, Petrucelli L. Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathol. 2014;127:359-76 pubmed publisher
    A hexanucleotide repeat expansion within a non-coding region of the C9ORF72 gene is the most common mutation causative of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS)...
  31. Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, et al. Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2012;33:2527.e11-6 pubmed publisher
    Recently, a hexanucleotide repeat expansion in C9orf72 was identified as the most common cause of both sporadic and familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Western populations...
  32. Zu T, Liu Y, Bañez Coronel M, Reid T, Pletnikova O, Lewis J, et al. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci U S A. 2013;110:E4968-77 pubmed publisher
    The finding that a GGGGCC (G4C2) hexanucleotide repeat expansion in the chromosome 9 ORF 72 (C9ORF72) gene is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) links ALS/FTD to a large group of ..
  33. Mori K, Weng S, Arzberger T, May S, Rentzsch K, Kremmer E, et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science. 2013;339:1335-8 pubmed publisher
    Expansion of a GGGGCC hexanucleotide repeat upstream of the C9orf72 coding region is the most common cause of familial frontotemporal lobar degeneration and amyotrophic lateral sclerosis (FTLD/ALS), but the pathomechanisms involved are ..
  34. Luigetti M, Quaranta D, Conte A, Piccininni C, Lattante S, Romano A, et al. Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14:66-9 pubmed publisher
    ..and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS ..
  35. Snowden J, Harris J, Richardson A, Rollinson S, Thompson J, Neary D, et al. Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14:172-6 pubmed publisher
    Repeat expansions in C9orf72 are a major cause of frontotemporal dementia with amyotrophic lateral sclerosis (FTD-ALS). Not all FTD-ALS patients show expansions...
  36. Brettschneider J, Van Deerlin V, Robinson J, Kwong L, Lee E, Ali Y, et al. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol. 2012;123:825-39 pubmed publisher
    b>C9ORF72-hexanucleotide repeat expansions and ubiquilin-2 (UBQLN2) mutations are recently identified genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)...
  37. Lindquist S, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet. 2013;83:279-83 pubmed publisher
    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)...
  38. Kwon I, Xiang S, Kato M, Wu L, Theodoropoulos P, Wang T, et al. Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells. Science. 2014;345:1139-45 pubmed publisher
    ..The translation products of the sense and antisense transcripts of the expansion repeats associated with the C9orf72 gene altered in neurodegenerative disease encode GRn and PRn repeat polypeptides...
  39. Rademakers R, Neumann M, Mackenzie I. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol. 2012;8:423-34 pubmed publisher
    ..In 2011, abnormal expansion of a hexanucleotide repeat in the gene C9orf72 was found to be the most common genetic cause of both FTD and ALS...
  40. Renton A, Majounie E, Waite A, Simon Sanchez J, Rollinson S, Gibbs J, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257-68 pubmed publisher
    ..We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region...
  41. Waite A, Bäumer D, East S, Neal J, Morris H, Ansorge O, et al. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiol Aging. 2014;35:1779.e5-1779.e13 pubmed publisher
    An intronic G(4)C(2) hexanucleotide repeat expansion in C9ORF72 is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration...
  42. Huey E, Nagy P, Rodriguez Murillo L, Manoochehri M, Goldman J, Lieberman J, et al. C9ORF72 repeat expansions not detected in a group of patients with schizophrenia. Neurobiol Aging. 2013;34:1309.e9-10 pubmed publisher
    A hexanucleotide repeat expansion in C9ORF72 was recently found to cause some cases of frontotemporal lobar degeneration, frontotemporal dementia (FTD)-amyotrophic lateral sclerosis, and amyotrophic lateral sclerosis...
  43. Ciura S, Lattante S, Le Ber I, Latouche M, Tostivint H, Brice A, et al. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol. 2013;74:180-7 pubmed publisher
    To define the role that repeat expansions of a GGGGCC hexanucleotide sequence of the C9orf72 gene play in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)...
  44. van Blitterswijk M, Baker M, DeJesus Hernandez M, Ghidoni R, Benussi L, Finger E, et al. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 2013;81:1332-41 pubmed publisher
    ..phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry ..
  45. Yeh T, Lai S, Weng Y, Kuo H, Wu Chou Y, Huang C, et al. Screening for C9orf72 repeat expansions in parkinsonian syndromes. Neurobiol Aging. 2013;34:1311.e3-4 pubmed publisher
    ..In this study, we analyze the hexanucleotide repeat expansions within C9orf72 gene in various parkinsonian syndromes because it is a recently identified important genetic cause of FTD...
  46. Reddy K, Zamiri B, Stanley S, Macgregor R, Pearson C. The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J Biol Chem. 2013;288:9860-6 pubmed publisher
    ..and frontotemporal dementia were recently shown to be caused by expansion of a (GGGGCC)n·(GGCCCC)n repeat in the C9orf72 gene...
  47. Hensman Moss D, Poulter M, Beck J, Hehir J, Polke J, Campbell T, et al. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology. 2014;82:292-9 pubmed publisher
    ..A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic frontotemporal lobar degeneration and ..
  48. Mok K, Koutsis G, Schottlaender L, Polke J, Panas M, Houlden H. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging. 2012;33:1851.e1-5 pubmed publisher
    An intronic expansion of a hexanucleotide GGGGCC repeat in the C9ORF72 gene has recently been shown to be an important cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in familial and sporadic cases...
  49. Dobson Stone C, Hallupp M, Loy C, Thompson E, Haan E, Sue C, et al. C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLoS ONE. 2013;8:e56899 pubmed publisher
    A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known...
  50. Chio A, Borghero G, Restagno G, Mora G, Drepper C, Traynor B, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain. 2012;135:784-93 pubmed publisher
    A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic lateral sclerosis cases of European ..
  51. Chio A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, et al. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry. 2012;83:730-3 pubmed publisher
    ..A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene. To describe the co-presence of two genetic mutations in two Sardinian ALS patients...
  52. Boxer A, Mackenzie I, Boeve B, Baker M, Seeley W, Crook R, et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry. 2011;82:196-203 pubmed publisher
    ..Family VSM-20 significantly reduces the region linked to FTD-ALS on chromosome 9p. A distinct pattern of brain atrophy and neuropathological findings may help to identify other families with FTD-ALS caused by this genetic abnormality. ..
  53. Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, et al. C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging. 2012;33:2528.e7-14 pubmed publisher
    A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of amyotrophic lateral sclerosis (ALS) and cases with frontotemporal dementia...
  54. Mackenzie I, Frick P, Neumann M. The neuropathology associated with repeat expansions in the C9ORF72 gene. Acta Neuropathol. 2014;127:347-57 pubmed publisher
    ..of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) is the most common genetic abnormality in familial and sporadic FTLD and ALS and the cause in most families ..
  55. Fratta P, Poulter M, Lashley T, Rohrer J, Polke J, Beck J, et al. Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol. 2013;126:401-9 pubmed publisher
    An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS)...
  56. Debray S, Race V, Crabbé V, Herdewyn S, Matthijs G, Goris A, et al. Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study. Neurobiol Aging. 2013;34:2890.e7-2890.e12 pubmed publisher
    We determined the frequency of C9orf72 repeat expansions in a large cohort of Belgian patients with familial (fALS) and sporadic (sALS) amyotrophic lateral sclerosis (ALS)...
  57. Murray M, DeJesus Hernandez M, Rutherford N, Baker M, Duara R, Graff Radford N, et al. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol. 2011;122:673-90 pubmed publisher
    ..of these families have linkage to chromosome 9, with hexanucleotide expansion mutation in a noncoding region of C9ORF72. Discovery of the mutation defines c9FTD/ALS...
  58. Mizielinska S, Gronke S, Niccoli T, Ridler C, Clayton E, Devoy A, et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science. 2014;345:1192-1194 pubmed publisher
    An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis...
  59. DeJesus Hernandez M, Rayaprolu S, Soto Ortolaza A, Rutherford N, Heckman M, Traynor S, et al. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord. 2013;19:198-201 pubmed publisher
    The hexanucleotide expanded repeat (GGGGCC) in intron 1 of the C9orf72 gene is recognized as the most common genetic form of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  60. Sha S, Takada L, Rankin K, Yokoyama J, Rutherford N, Fong J, et al. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology. 2012;79:1002-11 pubmed publisher
    To describe the phenotype of patients with C9FTD/ALS (C9ORF72) hexanucleotide repeat expansion...
  61. Davidson Y, Robinson A, Snowden J, Mann D. Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease. Acta Neuropathol Commun. 2013;1:50 pubmed publisher
    We have sought histological evidence, using TDP-43 and p62 immunohistochemistry, for the presence of expansions in C9ORF72 among 200 patients with pathologically confirmed AD...
  62. Akimoto C, Forsgren L, Linder J, Birve A, Backlund I, Andersson J, et al. No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14:26-9 pubmed publisher
    An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia...
  63. DeJesus Hernandez M, Mackenzie I, Boeve B, Boxer A, Baker M, Rutherford N, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245-56 pubmed publisher
    ..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 ..
  64. Dols Icardo O, García Redondo A, Rojas Garcia R, Sanchez Valle R, Noguera A, Gomez Tortosa E, et al. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet. 2014;23:749-54 pubmed publisher
    Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  65. Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, et al. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain. 2013;136:385-91 pubmed publisher
    The recently identified C9orf72 gene accounts for a large proportion of amyotrophic lateral sclerosis and frontotemporal lobar degenerations...
  66. van Blitterswijk M, DeJesus Hernandez M, Rademakers R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?. Curr Opin Neurol. 2012;25:689-700 pubmed publisher
    The aim of this review is to describe disease mechanisms by which chromosome 9 open reading frame 72 (C9ORF72) repeat expansions could lead to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and to discuss these ..
  67. Bieniek K, van Blitterswijk M, Baker M, Petrucelli L, Rademakers R, Dickson D. Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. JAMA Neurol. 2014;71:775-81 pubmed publisher
    Expanded hexanucleotide repeats in C9ORF72 are a common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis...
  68. Nuytemans K, Inchausti V, Beecham G, Wang L, Dickson D, Trojanowski J, et al. Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease. Mov Disord. 2014;29:827-30 pubmed publisher
    We have reported that intermediate repeat lengths of the C9ORF72 repeat are a risk factor for Parkinson's disease (PD) in a clinically diagnosed data set...
  69. May S, Hornburg D, Schludi M, Arzberger T, Rentzsch K, Schwenk B, et al. C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration. Acta Neuropathol. 2014;128:485-503 pubmed publisher
    Hexanucleotide repeat expansion in C9orf72 is the most common pathogenic mutation in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)...
  70. van Rheenen W, van Blitterswijk M, Huisman M, Vlam L, van Doormaal P, Seelen M, et al. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology. 2012;79:878-82 pubmed publisher
    To assess the frequency and phenotype of hexanucleotide repeat expansions in C9ORF72 in a large cohort of patients of Dutch descent with familial (fALS) and sporadic (sALS) amyotrophic lateral sclerosis (ALS), progressive muscular ..
  71. Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklos L, Bell C, et al. An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology. 2012;32:505-14 pubmed publisher
    ..were excluded; however, further investigations revealed that all four of the cases did show a repeat expansion of C9orf72, the recently reported cause of chromosome 9-linked MND/ALS and FTLD...
  72. Suzuki N, Maroof A, Merkle F, Koszka K, Intoh A, Armstrong I, et al. The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD. Nat Neurosci. 2013;16:1725-7 pubmed publisher
    Using transgenic mice harboring a targeted LacZ insertion, we studied the expression pattern of the C9ORF72 mouse ortholog (3110043O21Rik)...
  73. Nuytemans K, Bademci G, Kohli M, Beecham G, Wang L, Young J, et al. C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet. 2013;77:351-63 pubmed publisher
    We set out to determine whether expansions in the C9ORF72 repeat found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) families are associated with Parkinson disease (PD)...
  74. Haeusler A, Donnelly C, Periz G, Simko E, Shaw P, Kim M, et al. C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature. 2014;507:195-200 pubmed publisher
    A hexanucleotide repeat expansion (HRE), (GGGGCC)n, in C9orf72 is the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  75. Vance C, Al Chalabi A, Ruddy D, Smith B, Hu X, Sreedharan J, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain. 2006;129:868-76 pubmed
    ..02 (theta = 0) at D9S1878. Recombination narrowed the conserved haplotype to 12 cM (11 Mb) at 9p13.2-21.3 (flanking markers D9S2154 and D9S1874). Bioinformatic analysis of the region has identified 103 known genes. ..
  76. Devenney E, Hornberger M, Irish M, Mioshi E, Burrell J, Tan R, et al. Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile. JAMA Neurol. 2014;71:331-9 pubmed publisher
    While advances have been made in characterizing the C9ORF72 clinical phenotype, the hallmark features that discriminate between carriers and noncarriers remain unclear...
  77. Pamphlett R, Cheong P, Trent R, Yu B. Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study. Neuroreport. 2012;23:556-9 pubmed publisher
    Abnormally expanded C9orf72 hexanucleotide repeats are found in up to 7% of patients with sporadic amyotrophic lateral sclerosis (SALS)...
  78. Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C, et al. Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet. 2013;92:981-9 pubmed publisher
    The G4C2 repeat expansion in C9orf72 is the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)...
  79. Laaksovirta H, Peuralinna T, Schymick J, Scholz S, Lai S, Myllykangas L, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 2010;9:978-85 pubmed publisher
    ..National Institutes of Health and National Institute on Aging, Microsoft Research, ALS Association, Helsinki University Central Hospital, Finnish Academy, Finnish Medical Society Duodecim, and Kuopio University. ..