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Volumn 79, Issue 19, 2012, Pages 1983-1989

Extensive genetics of ALS : A population-based study in Italy

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOGENIN; CHROMOSOME 9 OPEN READING FRAME 72 PROTEIN; COPPER ZINC SUPEROXIDE DISMUTASE; FUSED IN SARCOMA PROTEIN; OPTINEURIN; PROTEIN; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

EID: 84871192467     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182735d36     Document Type: Article
Times cited : (139)

References (40)
  • 1
    • 37749020600 scopus 로고    scopus 로고
    • Descriptive epidemiology of amyotrophic lateral sclerosis: New evidence and unsolved issues
    • Logroscino G, Traynor BJ, Hardiman O, et al. Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J Neurol Neurosurg Psychiatry 2008;79:6-11.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 6-11
    • Logroscino, G.1    Traynor, B.J.2    Hardiman, O.3
  • 2
    • 79955774490 scopus 로고    scopus 로고
    • Rate of familial amyotrophic lateral sclerosis: A systematic review and meta-analysis
    • Byrne S, Walsh C, Lynch C, et al. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 2011;82: 623-627.
    • (2011) J Neurol Neurosurg Psychiatry , vol.82 , pp. 623-627
    • Byrne, S.1    Walsh, C.2    Lynch, C.3
  • 3
    • 0027401203 scopus 로고
    • Mutations in cu/zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3
  • 4
    • 41149180753 scopus 로고    scopus 로고
    • Tdp-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    • Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-1672.
    • (2008) Science , vol.319 , pp. 1668-1672
    • Sreedharan, J.1    Blair, I.P.2    Tripathi, V.B.3
  • 5
    • 33645422711 scopus 로고    scopus 로고
    • Ang mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
    • Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nature Genet 2006;38:411-413.
    • (2006) Nature Genet , vol.38 , pp. 411-413
    • Greenway, M.J.1    Andersen, P.M.2    Russ, C.3
  • 6
    • 61349156118 scopus 로고    scopus 로고
    • Mutations in the fus/tls gene on chromosome 16 cause familial amyotrophic lateral sclerosis
    • Kwiatkowski TJ Jr., Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-1208.
    • (2009) Science , vol.323 , pp. 1205-1208
    • Kwiatkowski Jr., T.J.1    Bosco, D.A.2    Leclerc, A.L.3
  • 7
    • 61349162349 scopus 로고    scopus 로고
    • Mutations in fus, an rna processing protein, cause familial amyotrophic lateral sclerosis type 6
    • Vance C, Rogelj B, Hortobágyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009;323:1208-1211.
    • (2009) Science , vol.323 , pp. 1208-1211
    • Vance, C.1    Rogelj, B.2    Hortobágyi, T.3
  • 8
    • 77952419246 scopus 로고    scopus 로고
    • Mutations of optineurin in amyotrophic lateral sclerosis
    • Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010;465: 223-226.
    • (2010) Nature , vol.465 , pp. 223-226
    • Maruyama, H.1    Morino, H.2    Ito, H.3
  • 9
    • 80054832080 scopus 로고    scopus 로고
    • Expanded ggggcc hexanucleotide repeat in noncoding region of c9orf72 causes chromosome 9p-linked ftd and als
    • Dejesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3
  • 10
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in c9orf72 is the cause of chromosome 9p21-linked als-ftd
    • Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-Linked ALS-FTD. Neuron 2011;72:257-268.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 11
    • 84863067477 scopus 로고    scopus 로고
    • Sod1, ang, tardbp and fus mutations in amyotrophic lateral sclerosis: A united states clinical testing lab experience
    • Brown JA, Min J, Staropoli JF, et al. SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience. Amyotroph Lateral Scler 2012;13:217-222.
    • (2012) Amyotroph Lateral Scler , vol.13 , pp. 217-222
    • Brown, J.A.1    Min, J.2    Staropoli, J.F.3
  • 12
    • 77955396350 scopus 로고    scopus 로고
    • Sod1, ang, vapb, tardbp, and fus mutations in familial amyotrophic lateral sclerosis: Genotype-phenotype correlations
    • Millecamps S, Salachas F, Cazeneuve C, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet 2010;47:554-560.
    • (2010) J Med Genet , vol.47 , pp. 554-560
    • Millecamps, S.1    Salachas, F.2    Cazeneuve, C.3
  • 13
    • 84862794799 scopus 로고    scopus 로고
    • Screening of the sod1, fus, tardbp, ang, and optn mutations in korean patients with familial and sporadic als
    • Kwon MJ, Baek W, Ki SC, et al. Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging 2012;33:e17-e23.
    • (2012) Neurobiol Aging , vol.33
    • Kwon, M.J.1    Baek, W.2    Ki, S.C.3
  • 14
    • 79952900459 scopus 로고    scopus 로고
    • Fus, tardbp, and sod1 in a taiwanese cohort of familial als
    • Tsai CP, Soong BW, Lin KP, et al. FUS, TARDBP, and SOD1 in a Taiwanese cohort of familial ALS. Neurobiol Aging 2011;32:553e13-553e21.
    • (2011) Neurobiol Aging , vol.32
    • Tsai, C.P.1    Soong, B.W.2    Lin, K.P.3
  • 15
    • 84864083825 scopus 로고    scopus 로고
    • Phenotype difference between als patients with expanded repeats in c9orf72 and patients with mutations in other alsrelated genes
    • Millecamps S, Boillée S, Le Ber I, et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALSrelated genes. J Med Genet 2012;49:258-263.
    • (2012) J Med Genet , vol.49 , pp. 258-263
    • Millecamps, S.1    Boillée, S.2    Le Ber, I.3
  • 16
    • 40349102131 scopus 로고    scopus 로고
    • Prevalence of sod1 mutations in the italian als population
    • Chió A, Traynor BJ, Lombardo F, Fimognari M, et al. Prevalence of SOD1 mutations in the Italian ALS population. Neurology 2008;70:533-537.
    • (2008) Neurology , vol.70 , pp. 533-537
    • Chió, A.1    Traynor, B.J.2    Lombardo, F.3    Fimognari, M.4
  • 17
    • 62349138647 scopus 로고    scopus 로고
    • Epidemiology of als in italy: A 10-year prospective population-based study
    • Chió A, Mora G, Calvo A, et al. Epidemiology of ALS in Italy: a 10-year prospective population-based study. Neurology 2009;72:725-731.
    • (2009) Neurology , vol.72 , pp. 725-731
    • Chió, A.1    Mora, G.2    Calvo, A.3
  • 18
    • 0034574407 scopus 로고    scopus 로고
    • World federation of neurology research group on motor neuron diseases el escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis
    • Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:293-299.
    • (2000) Amyotroph Lateral Scler Other Motor Neuron Disord , vol.1 , pp. 293-299
    • Brooks, B.R.1    Miller, R.G.2    Swash, M.3    Munsat, T.L.4
  • 19
    • 84857041955 scopus 로고    scopus 로고
    • Absence of consensus in diagnostic criteria for familial neurodegenerative diseases
    • Byrne S, Elamin M, Bede P, Hardiman O. Absence of consensus in diagnostic criteria for familial neurodegenerative diseases. J Neurol Neurosurg Psychiatry 2012;83:36-367.
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , pp. 36-367
    • Byrne, S.1    Elamin, M.2    Bede, P.3    Hardiman, O.4
  • 20
    • 84857050135 scopus 로고    scopus 로고
    • 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, et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9ORF72 repeat expansion: a population-based cohort study. Lancet Neurol 2012;11:232-240.
    • (2012) Lancet Neurol , vol.11 , pp. 232-240
    • Byrne, S.1    Elamin, M.2    Bede, P.3
  • 21
    • 84857522741 scopus 로고    scopus 로고
    • Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic ggggcc hexanucleotide repeat expansion of c9orf72
    • Chió A, Borghero G, Restagno G, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012;135:784-793.
    • (2012) Brain , vol.135 , pp. 784-793
    • Chió, A.1    Borghero, G.2    Restagno, G.3
  • 22
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the c9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
    • Majounie E, Renton AE, Mok K, et al. Frequency of the C9ORF72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012;11:323-330.
    • (2012) Lancet Neurol , vol.11 , pp. 323-330
    • Majounie, E.1    Renton, A.E.2    Mok, K.3
  • 25
    • 67651160559 scopus 로고    scopus 로고
    • Consensus criteria for the diagnosis of frontotemporal cognitive and behavioral syndromes in amyotrophic lateral sclerosis
    • Strong MJ, Grace GM, Freedman M, et al. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioral syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2009;10:131-146.
    • (2009) Amyotroph Lateral Scler , vol.10 , pp. 131-146
    • Strong, M.J.1    Grace, G.M.2    Freedman, M.3
  • 26
    • 67349155310 scopus 로고    scopus 로고
    • Two italian kindreds with familial amyotrophic lateral sclerosis due to fus mutation
    • Chió A, Restagno G, Brunetti M, et al. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging 2009;30:1272-1275.
    • (2009) Neurobiol Aging , vol.30 , pp. 1272-1275
    • Chió, A.1    Restagno, G.2    Brunetti, M.3
  • 27
    • 77956876046 scopus 로고    scopus 로고
    • Chromosome 9p21 in amyotrophic lateral sclerosis in finland: A genomewide association study
    • Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genomewide association study. Lancet Neurol 2010;9:978-985.
    • (2010) Lancet Neurol , vol.9 , pp. 978-985
    • Laaksovirta, H.1    Peuralinna, T.2    Schymick, J.C.3
  • 28
    • 9544236295 scopus 로고    scopus 로고
    • Autosomal recessive adult-onset als associated with homozygosity for asp90ala cuzn-superoxide dismutase mutation: A clinical and genealogical study of 36 patients
    • Andersen PM, Forsgren L, Binzer M, et al. Autosomal recessive adult-onset ALS associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation: a clinical and genealogical study of 36 patients. Brain 1996;119: 1153-1172.
    • (1996) Brain , vol.119 , pp. 1153-1172
    • Andersen, P.M.1    Forsgren, L.2    Binzer, M.3
  • 29
    • 79955767066 scopus 로고    scopus 로고
    • Large proportion of amyotrophic lateral sclerosis cases in sardinia due to a single founder mutation of the tardbp gene
    • Chió A, Borghero G, Pugliatti M, et al. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 2011;68:594-598.
    • (2011) Arch Neurol , vol.68 , pp. 594-598
    • Chió, A.1    Borghero, G.2    Pugliatti, M.3
  • 30
    • 84863393788 scopus 로고    scopus 로고
    • Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the ggggcc repeat expansion in c9orf72
    • Boeve BF, Boylan KB, Graff-Radford RM, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 2012;135:765-783.
    • (2012) Brain , vol.135 , pp. 765-783
    • Boeve, B.F.1    Boylan, K.B.2    Graff-Radford, R.M.3
  • 31
    • 84857054634 scopus 로고    scopus 로고
    • Clinicopathological features in amyotrophic lateral sclerosis with expansions in c9orf72
    • Cooper-Knock J, Shaw P, Hewitt C, et al. Clinicopathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012;135:751-764.
    • (2012) Brain , vol.135 , pp. 751-764
    • Cooper-Knock, J.1    Shaw, P.2    Hewitt, C.3
  • 32
    • 84861888264 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat expansion in the italian sporadic als population
    • Sabatelli M, Conforti FL, Zollino M, et al. C9ORF72 hexanucleotide repeat expansion in the Italian sporadic ALS population. Neurobiol Aging 2012;33:1848.
    • (2012) Neurobiol Aging , vol.33 , pp. 1848
    • Sabatelli, M.1    Conforti, F.L.2    Zollino, M.3
  • 33
    • 62549116125 scopus 로고    scopus 로고
    • Sod1 and cognitive dysfunction in familial amyotrophic lateral sclerosis
    • Wicks P, Abrahams S, Papps B, et al. SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis. J Neurol 2009;256:234-341.
    • (2009) J Neurol , vol.256 , pp. 234-341
    • Wicks, P.1    Abrahams, S.2    Papps, B.3
  • 34
    • 77952570883 scopus 로고    scopus 로고
    • Four familial als pedigrees discordant for two sod1 mutations: Are all sod1 mutations pathogenic?
    • Felbecker A, Camu W, Valdmanis PN, et al. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J Neurol Neurosurg Psychiatry 2010;81:572-577.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 572-577
    • Felbecker, A.1    Camu, W.2    Valdmanis, P.N.3
  • 35
    • 80755133370 scopus 로고    scopus 로고
    • Clinical genetics of amyotrophic lateral sclerosis: What do we really know?
    • Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol 2011;7:603-615.
    • (2011) Nat Rev Neurol , vol.7 , pp. 603-615
    • Andersen, P.M.1    Al-Chalabi, A.2
  • 36
    • 84255163614 scopus 로고    scopus 로고
    • Angiogenin variants in parkinson disease and amyotrophic lateral sclerosis
    • Van Es MA, Scheelhas HJ, van Vugh PWJ, et al. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011;70:964-973.
    • (2011) Ann Neurol , vol.70 , pp. 964-973
    • Van Es, M.A.1    Scheelhas, H.J.2    Van Vugh, P.W.J.3
  • 37
    • 37549038185 scopus 로고    scopus 로고
    • Absence of angiogenin genes modifications in italian als patients
    • Del Bo R, Scarlato M, Ghezzi S, et al. Absence of angiogenin genes modifications in Italian ALS patients. Neurobiol Aging 2008;29:314-316.
    • (2008) Neurobiol Aging , vol.29 , pp. 314-316
    • Del Bo, R.1    Scarlato, M.2    Ghezzi, S.3
  • 38
    • 34249940140 scopus 로고    scopus 로고
    • Variations in the coding and regulatory sequences of angiogenin (ang) gene are not associated to als (amyotrophic lateral sclerosis) in the italian population
    • Corrado L, Battistini S, Penco S, et al. Variations in the coding and regulatory sequences of angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population. J Neurol Sci 2007;258: 123-127.
    • (2007) J Neurol Sci , vol.258 , pp. 123-127
    • Corrado, L.1    Battistini, S.2    Penco, S.3
  • 39
    • 38649105800 scopus 로고    scopus 로고
    • Identification of new ang gene mutations in a large cohort of italian patients with amyotrophic lateral sclerosis
    • Gellera C, Colombrita C, Ticozzi N, et al. Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. Neurogenetics 2008;9:33-40.
    • (2008) Neurogenetics , vol.9 , pp. 33-40
    • Gellera, C.1    Colombrita, C.2    Ticozzi, N.3
  • 40
    • 38649097173 scopus 로고    scopus 로고
    • A novel angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern italy
    • Conforti FL, Sprovieri T, Mazzei R, et al. A novel angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. Neuromuscul Dis 2008;18:68-70.
    • (2008) Neuromuscul Dis , vol.18 , pp. 68-70
    • Conforti, F.L.1    Sprovieri, T.2    Mazzei, R.3


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