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Volumn 3, Issue 1, 2014, Pages 1-18

C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: Clinical heterogeneity and pathological diversity

Author keywords

Amyotrophic lateral sclerosis; C9ORF72; Frontotemporal dementia; Motor neuron disease; Protein trafficking; RNA

Indexed keywords

RNA;

EID: 84980052653     PISSN: None     EISSN: 2165591X     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (26)

References (132)
  • 4
    • 82355180826 scopus 로고    scopus 로고
    • p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
    • Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobágyi T and Shaw CE. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathologica 2011; 122: 691-702.
    • (2011) Acta Neuropathologica , vol.122 , pp. 691-702
    • Al-Sarraj, S.1    King, A.2    Troakes, C.3    Smith, B.4    Maekawa, S.5    Bodi, I.6    Rogelj, B.7    Al-Chalabi, A.8    Hortobágyi, T.9    Shaw, C.E.10
  • 9
    • 84867896994 scopus 로고    scopus 로고
    • Neuroimaging features of C9ORF72 expansion
    • Yokoyama JS and Rosen HJ. Neuroimaging features of C9ORF72 expansion. Alzheimers Res Ther 2012; 4: 45.
    • (2012) Alzheimers Res Ther , vol.4 , pp. 45
    • Yokoyama, J.S.1    Rosen, H.J.2
  • 13
    • 84870041158 scopus 로고    scopus 로고
    • How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders?
    • van Blitterswijk M, DeJesus-Hernandez M and 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.
    • (2012) Curr Opin Neurol , vol.25 , pp. 689-700
    • van Blitterswijk, M.1    DeJesus-Hernandez, M.2    Rademakers, R.3
  • 14
    • 84896699287 scopus 로고    scopus 로고
    • The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
    • Cooper-Knock J, Shaw PJ and Kirby J. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathol 2014; 127: 333-45.
    • (2014) Acta Neuropathol , vol.127 , pp. 333-345
    • Cooper-Knock, J.1    Shaw, P.J.2    Kirby, J.3
  • 24
    • 0031799938 scopus 로고    scopus 로고
    • Microcircuitry of the direct and indirect pathways of the basal ganglia
    • Smith Y, Bevan MD, Shink E and Bolam JP. Microcircuitry of the direct and indirect pathways of the basal ganglia. Neuroscience 1998; 86: 353-387.
    • (1998) Neuroscience , vol.86 , pp. 353-387
    • Smith, Y.1    Bevan, M.D.2    Shink, E.3    Bolam, J.P.4
  • 28
    • 84980053635 scopus 로고    scopus 로고
    • Slowly progressive frontotemporal lobar degeneration caused by the C9ORF72 repeat expansion: A 20-year follow-up study
    • [Epub ahead of print]
    • Suhonen NM, Kaivorinne AL, Moilanen V, Bode M, Takalo R, Hanninen T and Remes AM. Slowly progressive frontotemporal lobar degeneration caused by the C9ORF72 repeat expansion: a 20-year follow-up study. Neurocase 2014; [Epub ahead of print].
    • (2014) Neurocase
    • Suhonen, N.M.1    Kaivorinne, A.L.2    Moilanen, V.3    Bode, M.4    Takalo, R.5    Hanninen, T.6    Remes, A.M.7
  • 30
    • 84866176965 scopus 로고    scopus 로고
    • Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease
    • Takada LT and Sha SJ. Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease. Alzheimers Res Ther 2012; 4: 38.
    • (2012) Alzheimers Res Ther , vol.4 , pp. 38
    • Takada, L.T.1    Sha, S.J.2
  • 33
    • 84878972923 scopus 로고    scopus 로고
    • Heightened emotional contagion in mild cognitive impairment and Alzheimer's disease is associated with temporal lobe degeneration
    • Sturm VE, Yokoyama JS, Seeley WW, Kramer JH, Miller BL and Rankin KP. Heightened emotional contagion in mild cognitive impairment and Alzheimer's disease is associated with temporal lobe degeneration. Proc Natl Acad Sci U S A 2013; 110: 9944-9949.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 9944-9949
    • Sturm, V.E.1    Yokoyama, J.S.2    Seeley, W.W.3    Kramer, J.H.4    Miller, B.L.5    Rankin, K.P.6
  • 34
    • 49649119221 scopus 로고    scopus 로고
    • Disconnection syndromes of basal ganglia, thalamus, and cerebrocerebellar systems
    • Schmahmann JD and Pandya DN. Disconnection syndromes of basal ganglia, thalamus, and cerebrocerebellar systems. Cortex 2008; 44: 1037-1066.
    • (2008) Cortex , vol.44 , pp. 1037-1066
    • Schmahmann, J.D.1    Pandya, D.N.2
  • 37
    • 84880311335 scopus 로고    scopus 로고
    • Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions
    • Irish M, Devenney E, Wong S, Dobson-Stone C, Kwok JB, Piguet O, Hodges JR and Hornberger M. Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions. Neuroimage Clin 2013; 2: 836-843.
    • (2013) Neuroimage Clin , vol.2 , pp. 836-843
    • Irish, M.1    Devenney, E.2    Wong, S.3    Dobson-Stone, C.4    Kwok, J.B.5    Piguet, O.6    Hodges, J.R.7    Hornberger, M.8
  • 38
    • 84881490873 scopus 로고    scopus 로고
    • Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis
    • Ling SC, Polymenidou M and Cleveland DW. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron 2013; 79: 416-438.
    • (2013) Neuron , vol.79 , pp. 416-438
    • Ling, S.C.1    Polymenidou, M.2    Cleveland, D.W.3
  • 47
    • 84881531855 scopus 로고    scopus 로고
    • Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis
    • [Epub ahead of print]
    • Ciura S, Lattante S, Le Ber I, Latouche M, Tostivint H, Brice A and Kabashi E. Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis. Ann Neurol 2013; [Epub ahead of print].
    • (2013) Ann Neurol
    • Ciura, S.1    Lattante, S.2    Le Ber, I.3    Latouche, M.4    Tostivint, H.5    Brice, A.6    Kabashi, E.7
  • 48
    • 84892597871 scopus 로고    scopus 로고
    • Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
    • Therrien M, Rouleau GA, Dion PA and Parker JA. Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans. PLoS One 2013; 8: e83450.
    • (2013) PLoS One , vol.8
    • Therrien, M.1    Rouleau, G.A.2    Dion, P.A.3    Parker, J.A.4
  • 49
    • 84874266850 scopus 로고    scopus 로고
    • Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease
    • Zhang D, Iyer LM, He F and Aravind L. Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease. Front Genet 2012; 3: 283.
    • (2012) Front Genet , vol.3 , pp. 283
    • Zhang, D.1    Iyer, L.M.2    He, F.3    Aravind, L.4
  • 50
    • 84874246696 scopus 로고    scopus 로고
    • The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
    • Levine TP, Daniels RD, Gatta AT, Wong LH and Hayes MJ. The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 2013; 29: 499-503.
    • (2013) Bioinformatics , vol.29 , pp. 499-503
    • Levine, T.P.1    Daniels, R.D.2    Gatta, A.T.3    Wong, L.H.4    Hayes, M.J.5
  • 51
    • 33745615846 scopus 로고    scopus 로고
    • Amino acids regulate retrieval of the yeast general amino acid permease from the vacuolar targeting pathway
    • Rubio-Texeira M and Kaiser CA. Amino acids regulate retrieval of the yeast general amino acid permease from the vacuolar targeting pathway. Mol Biol Cell 2006; 17: 3031-3050.
    • (2006) Mol Biol Cell , vol.17 , pp. 3031-3050
    • Rubio-Texeira, M.1    Kaiser, C.A.2
  • 53
    • 84873050230 scopus 로고    scopus 로고
    • The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function
    • Brady OA, Zheng Y, Murphy K, Huang M and Hu F. The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function. Hum Mol Genet 2013; 22: 685-695.
    • (2013) Hum Mol Genet , vol.22 , pp. 685-695
    • Brady, O.A.1    Zheng, Y.2    Murphy, K.3    Huang, M.4    Hu, F.5
  • 56
    • 84871801926 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
    • Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EMC, Parkinson G and Isaacs AM. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2012; 2: 1016.
    • (2012) Sci Rep , vol.2 , pp. 1016
    • Fratta, P.1    Mizielinska, S.2    Nicoll, A.J.3    Zloh, M.4    Fisher, E.M.C.5    Parkinson, G.6    Isaacs, A.M.7
  • 57
    • 84875981640 scopus 로고    scopus 로고
    • The disease-associated r(GGGGCC)n repeat from the C9ORF72 gene forms tract length-dependent uni- and multi-molecular RNA G-quadruplex structures
    • Reddy K, Zamiri B, Stanley SYR, Macgregor RB Jr and Pearson CE. The disease-associated r(GGGGCC)n repeat from the C9ORF72 gene forms tract length-dependent uni- and multi-molecular RNA G-quadruplex structures. J Biol Chem 2013; 288: 9860-6.
    • (2013) J Biol Chem , vol.288 , pp. 9860-9866
    • Reddy, K.1    Zamiri, B.2    Stanley, S.Y.R.3    Macgregor, R.B.4    Pearson, C.E.5
  • 58
    • 0037015078 scopus 로고    scopus 로고
    • Direct evidence for a G-quadruplex in a promoter region and its targeting with a small molecule to repress c-MYC transcription
    • Siddiqui-Jain A, Grand CL, Bearss DJ and Hurley LH. Direct evidence for a G-quadruplex in a promoter region and its targeting with a small molecule to repress c-MYC transcription. Proc Natl Acad Sci U S A 2002; 99: 11593-11598.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 11593-11598
    • Siddiqui-Jain, A.1    Grand, C.L.2    Bearss, D.J.3    Hurley, L.H.4
  • 59
    • 76349122184 scopus 로고    scopus 로고
    • Human telomeric G-quadruplex: The current status of telomeric G-quadruplexes as therapeutic targets in human cancer
    • Neidle S. Human telomeric G-quadruplex: the current status of telomeric G-quadruplexes as therapeutic targets in human cancer. FEBS J 2010; 277: 1118-1125.
    • (2010) FEBS J , vol.277 , pp. 1118-1125
    • Neidle, S.1
  • 60
    • 84055188686 scopus 로고    scopus 로고
    • Photoactivated cationic alkyl-substituted porphyrin binding to g4-RNA in the 5'-UTR of KRAS oncogene represses translation
    • Faudale M, Cogoi S and Xodo LE. Photoactivated cationic alkyl-substituted porphyrin binding to g4-RNA in the 5'-UTR of KRAS oncogene represses translation. Chem Commun (Camb) 2012; 48: 874-876.
    • (2012) Chem Commun (Camb) , vol.48 , pp. 874-876
    • Faudale, M.1    Cogoi, S.2    Xodo, L.E.3
  • 67
    • 84867774700 scopus 로고    scopus 로고
    • TDP-43 in central nervous system development and function: Clues to TDP-43-associated neurodegeneration
    • Sephton CF, Cenik B, Cenik BK, Herz J and Yu G. TDP-43 in central nervous system development and function: clues to TDP-43-associated neurodegeneration. Biol Chem 2012; 393: 589-594.
    • (2012) Biol Chem , vol.393 , pp. 589-594
    • Sephton, C.F.1    Cenik, B.2    Cenik, B.K.3    Herz, J.4    Yu, G.5
  • 68
    • 77949878273 scopus 로고    scopus 로고
    • TDP-43 is a developmentally regulated protein essential for early embryonic development
    • Sephton CF, Good SK, Atkin S, Dewey CM, Mayer P 3rd, Herz J and Yu G. TDP-43 is a developmentally regulated protein essential for early embryonic development. J Biol Chem 2010; 285: 6826-6834.
    • (2010) J Biol Chem , vol.285 , pp. 6826-6834
    • Sephton, C.F.1    Good, S.K.2    Atkin, S.3    Dewey, C.M.4    Mayer, P.5    Herz, J.6    Yu, G.7
  • 70
    • 84862128438 scopus 로고    scopus 로고
    • TDP-43 aggregation in neurodegeneration: Are stress granules the key?
    • Dewey CM, Cenik B, Sephton CF, Johnson BA, Herz J and Yu G. TDP-43 aggregation in neurodegeneration: are stress granules the key? Brain Res 2012; 1462: 16-25.
    • (2012) Brain Res , vol.1462 , pp. 16-25
    • Dewey, C.M.1    Cenik, B.2    Sephton, C.F.3    Johnson, B.A.4    Herz, J.5    Yu, G.6
  • 71
    • 84883446343 scopus 로고    scopus 로고
    • Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma
    • Bentmann E, Haass C and Dormann D. Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma. FEBS J 2013; 280: 4348-4370.
    • (2013) FEBS J , vol.280 , pp. 4348-4370
    • Bentmann, E.1    Haass, C.2    Dormann, D.3
  • 72
    • 59449092121 scopus 로고    scopus 로고
    • Multiple roles for Puralpha in cellular and viral regulation
    • White MK, Johnson EM and Khalili K. Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle 2009; 8: 1-7.
    • (2009) Cell Cycle , vol.8 , pp. 1-7
    • White, M.K.1    Johnson, E.M.2    Khalili, K.3
  • 73
    • 4143088149 scopus 로고    scopus 로고
    • Kinesin transports RNA: Isolation and characterization of an RNA-transporting granule
    • Kanai Y, Dohmae N and Hirokawa N. Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron 2004; 43: 513-525.
    • (2004) Neuron , vol.43 , pp. 513-525
    • Kanai, Y.1    Dohmae, N.2    Hirokawa, N.3
  • 74
    • 84862200262 scopus 로고    scopus 로고
    • Drosophila Pur-α binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte
    • Aumiller V, Graebsch A, Kremmer E, Niessing D and Förstemann K. Drosophila Pur-α binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte. RNA Biol 2012; 9: 633-643.
    • (2012) RNA Biol , vol.9 , pp. 633-643
    • Aumiller, V.1    Graebsch, A.2    Kremmer, E.3    Niessing, D.4    Förstemann, K.5
  • 75
    • 63449132795 scopus 로고    scopus 로고
    • Nuclear functions of heterogeneous nuclear ribonucleoproteins A/B
    • He Y and Smith R. Nuclear functions of heterogeneous nuclear ribonucleoproteins A/B. Cell Mol Life Sci 2009; 66: 1239-1256.
    • (2009) Cell Mol Life Sci , vol.66 , pp. 1239-1256
    • He, Y.1    Smith, R.2
  • 80
    • 84863694093 scopus 로고    scopus 로고
    • MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats
    • Tan H, Poidevin M, Li H, Chen D and Jin P. MicroRNA-277 modulates the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet 2012; 8: e1002681.
    • (2012) PLoS Genet , vol.8
    • Tan, H.1    Poidevin, M.2    Li, H.3    Chen, D.4    Jin, P.5
  • 87
    • 14244261725 scopus 로고    scopus 로고
    • Axonal transport defects: A common theme in neurodegenerative diseases
    • Roy S, Zhang B, Lee VM and Trojanowski JQ. Axonal transport defects: a common theme in neurodegenerative diseases. Acta Neuropathol 2005; 109: 5-13.
    • (2005) Acta Neuropathol , vol.109 , pp. 5-13
    • Roy, S.1    Zhang, B.2    Lee, V.M.3    Trojanowski, J.Q.4
  • 99
    • 84893649256 scopus 로고    scopus 로고
    • State of play in amyotrophic lateral sclerosis genetics
    • Renton AE, Chio A and Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014; 17: 17-23.
    • (2014) Nat Neurosci , vol.17 , pp. 17-23
    • Renton, A.E.1    Chio, A.2    Traynor, B.J.3
  • 106
    • 80855131541 scopus 로고    scopus 로고
    • TMEM106B a novel risk factor for frontotemporal lobar degeneration
    • Van Der Zee J and Van Broeckhoven C. TMEM106B a novel risk factor for frontotemporal lobar degeneration. J Mol Neurosci 2011; 45: 516-521.
    • (2011) J Mol Neurosci , vol.45 , pp. 516-521
    • Van Der Zee, J.1    Van Broeckhoven, C.2
  • 108
    • 66449114033 scopus 로고    scopus 로고
    • p62 at the crossroads of autophagy, apoptosis, and cancer
    • Moscat J and Diaz-Meco MT. p62 at the crossroads of autophagy, apoptosis, and cancer. Cell 2009; 137: 1001-1004.
    • (2009) Cell , vol.137 , pp. 1001-1004
    • Moscat, J.1    Diaz-Meco, M.T.2
  • 111
  • 113
    • 0042919305 scopus 로고    scopus 로고
    • Vascular syndromes of the thalamus
    • Schmahmann JD. Vascular syndromes of the thalamus. Stroke 2003; 34: 2264-2278.
    • (2003) Stroke , vol.34 , pp. 2264-2278
    • Schmahmann, J.D.1
  • 123
    • 76549247563 scopus 로고
    • Some Modern Aspects of the Functional Anatomy of the Thalamus
    • Rose JE. Some Modern Aspects of the Functional Anatomy of the Thalamus. Mschr Psychiat Neurol 1950; 120: 378-387.
    • (1950) Mschr Psychiat Neurol , vol.120 , pp. 378-387
    • Rose, J.E.1
  • 127
    • 34948851363 scopus 로고    scopus 로고
    • Longitudinal Trajectories of Cognitive Change in Preclinical Alzheimer's Disease: A Growth Mixture Modeling Analysis
    • Small BJ and Bäckman L. Longitudinal Trajectories of Cognitive Change in Preclinical Alzheimer's Disease: A Growth Mixture Modeling Analysis. Cortex 2007; 43: 826-834.
    • (2007) Cortex , vol.43 , pp. 826-834
    • Small, B.J.1    Bäckman, L.2
  • 130
    • 79951967895 scopus 로고    scopus 로고
    • The diagnostic challenge of psychiatric symptoms in neurodegenerative disease: Rates of and risk factors for prior psychiatric diagnosis in patients with early neurodegenerative disease
    • Woolley JD, Khan BK, Murthy NK, Miller BL and Rankin KP. The diagnostic challenge of psychiatric symptoms in neurodegenerative disease: rates of and risk factors for prior psychiatric diagnosis in patients with early neurodegenerative disease. J Clin Psychiatry 2011; 72: 126-133.
    • (2011) J Clin Psychiatry , vol.72 , pp. 126-133
    • Woolley, J.D.1    Khan, B.K.2    Murthy, N.K.3    Miller, B.L.4    Rankin, K.P.5
  • 131
    • 84893642253 scopus 로고    scopus 로고
    • Cell-to-cell transmission of pathogenic proteins in neurodegenerative diseases
    • Guo JL and Lee VM. Cell-to-cell transmission of pathogenic proteins in neurodegenerative diseases. Nat Med 2014; 20: 130-138.
    • (2014) Nat Med , vol.20 , pp. 130-138
    • Guo, J.L.1    Lee, V.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.