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Volumn 169, Issue 1-2, 1999, Pages 56-60

Clinical characteristics of SOD1 gene mutations in UK families with ALS

Author keywords

Amyotrophic lateral sclerosis; Genetics; Motor neuron disease; SOD1; Superoxide dismutase

Indexed keywords

DNA; SUPEROXIDE DISMUTASE;

EID: 0032692608     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00216-6     Document Type: Article
Times cited : (51)

References (29)
  • 1
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis
    • Rosen D.R., Siddique T., Patterson D., et al. Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis. Nature. 362:1993;59-62.
    • (1993) Nature , vol.362 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3
  • 2
    • 0030014299 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis: Recent advances in understanding disease mechanisms
    • deBelleroche J., Orrell R.W., Virgo L. Amyotrophic lateral sclerosis: recent advances in understanding disease mechanisms. J Neuropathol Exp Neurol. 55:1996;749-759.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 749-759
    • Debelleroche, J.1    Orrell, R.W.2    Virgo, L.3
  • 3
    • 9544236295 scopus 로고    scopus 로고
    • Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation
    • Andersen P.M., Forsgren L., Binzer M., et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. Brain. 119:1996;1153-1172.
    • (1996) Brain , vol.119 , pp. 1153-1172
    • Andersen, P.M.1    Forsgren, L.2    Binzer, M.3
  • 4
    • 0028823914 scopus 로고
    • Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): A review of current developments
    • DeBelleroche J., Orrell R., King A. Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments. J Med Genet. 32:1995;841-847.
    • (1995) J Med Genet , vol.32 , pp. 841-847
    • Debelleroche, J.1    Orrell, R.2    King, A.3
  • 5
    • 0021921322 scopus 로고
    • Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase
    • Levanon D., Lieman-Hurwitz J., Dafni N., et al. Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase. EMBO J. 4:1985;77-84.
    • (1985) EMBO J , vol.4 , pp. 77-84
    • Levanon, D.1    Lieman-Hurwitz, J.2    Dafni, N.3
  • 6
    • 0031719298 scopus 로고    scopus 로고
    • Copper, zinc superoxide dismutase (SOD1) and its role in neuronal function and disease with particular relevance to motor neurone disease/amyotrophic lateral sclerosis
    • DeBelleroche J., Orrell R.W., Virgo L., et al. Copper, zinc superoxide dismutase (SOD1) and its role in neuronal function and disease with particular relevance to motor neurone disease/amyotrophic lateral sclerosis. Biochem Soc Trans. 26:1998;476-480.
    • (1998) Biochem Soc Trans , vol.26 , pp. 476-480
    • Debelleroche, J.1    Orrell, R.W.2    Virgo, L.3
  • 7
    • 0030945491 scopus 로고    scopus 로고
    • Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • Orrell R.W., Habgood J.J., Gardiner I., et al. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology. 48:1997;746-751.
    • (1997) Neurology , vol.48 , pp. 746-751
    • Orrell, R.W.1    Habgood, J.J.2    Gardiner, I.3
  • 8
    • 0029047111 scopus 로고
    • Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • Enayat Z.E., Orrell R.W., Claus A., et al. Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet. 4:1995;1239-1240.
    • (1995) Hum Mol Genet , vol.4 , pp. 1239-1240
    • Enayat, Z.E.1    Orrell, R.W.2    Claus, A.3
  • 9
    • 0031443762 scopus 로고    scopus 로고
    • Familial ALS is associated with mutations in all exons of SOD1: A novel mutation in exon 3 (Gly72Ser)
    • Orrell R.W., Marklund S.L., deBelleroche J.S. Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). J Neurol Sci. 153:1997;46-49.
    • (1997) J Neurol Sci , vol.153 , pp. 46-49
    • Orrell, R.W.1    Marklund, S.L.2    Debelleroche, J.S.3
  • 11
    • 0343537868 scopus 로고    scopus 로고
    • Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis
    • Hosler B.A., Nicholson G.A., Sapp P.C., et al. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromusc Disord. 6:1996;361-366.
    • (1996) Neuromusc Disord , vol.6 , pp. 361-366
    • Hosler, B.A.1    Nicholson, G.A.2    Sapp, P.C.3
  • 12
    • 0029945513 scopus 로고    scopus 로고
    • Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis
    • Orrell R.W., Habgood J., Rudge P., Lane R.J.M., deBelleroche J.S. Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis. Ann Neurol. 39:1996;810-812.
    • (1996) Ann Neurol , vol.39 , pp. 810-812
    • Orrell, R.W.1    Habgood, J.2    Rudge, P.3    Lane, R.J.M.4    Debelleroche, J.S.5
  • 14
    • 0029080304 scopus 로고
    • Familial amyotrophic lateral sclerosis with a point mutation of SOD1: Intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles
    • Orrell R.W., King A.W., Hilton D.A., et al. Familial amyotrophic lateral sclerosis with a point mutation of SOD1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry. 59:1995;266-270.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 266-270
    • Orrell, R.W.1    King, A.W.2    Hilton, D.A.3
  • 15
    • 0031936175 scopus 로고    scopus 로고
    • Mutations in all five exons of SOD-1 may cause ALS
    • Shaw C.E., Enayat Z.E., Chioza B.A., et al. Mutations in all five exons of SOD-1 may cause ALS. Ann Neurol. 43:1998;390-394.
    • (1998) Ann Neurol , vol.43 , pp. 390-394
    • Shaw, C.E.1    Enayat, Z.E.2    Chioza, B.A.3
  • 16
    • 0030749160 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia
    • Andersen P.M., Nilsson P., Keranen M.L., et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain. 120:1997;1723-1737.
    • (1997) Brain , vol.120 , pp. 1723-1737
    • Andersen, P.M.1    Nilsson, P.2    Keranen, M.L.3
  • 17
    • 0031456315 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation
    • Shaw C.E., Enayat Z.E., Powell J.F., et al. Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation. Neurology. 49:1997;1612-1616.
    • (1997) Neurology , vol.49 , pp. 1612-1616
    • Shaw, C.E.1    Enayat, Z.E.2    Powell, J.F.3
  • 18
    • 0029792449 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: Pathological and immunocytochemical changes
    • Ince P.G., Shaw P.J., Slade J.Y., Jones C., Hudgson P. Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes. Acta Neuropathol. 92:1996;395-403.
    • (1996) Acta Neuropathol , vol.92 , pp. 395-403
    • Ince, P.G.1    Shaw, P.J.2    Slade, J.Y.3    Jones, C.4    Hudgson, P.5
  • 19
    • 0029036463 scopus 로고
    • An improved protocol for the analysis of SOD1 mutations in patients with familial amyotrophic lateral sclerosis
    • Yulug I.G., Katsanis N., de Belleroche J., Collinge J., Fisher E.M.C. An improved protocol for the analysis of SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet. 4:1995;1101-1104.
    • (1995) Hum Mol Genet , vol.4 , pp. 1101-1104
    • Yulug, I.G.1    Katsanis, N.2    De Belleroche, J.3    Collinge, J.4    Fisher, E.M.C.5
  • 20
    • 0028916910 scopus 로고
    • Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients
    • Jones C.T., Swingler R.J., Simpson S.A., Brock D.J.H. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet. 32:1995;290-292.
    • (1995) J Med Genet , vol.32 , pp. 290-292
    • Jones, C.T.1    Swingler, R.J.2    Simpson, S.A.3    Brock, D.J.H.4
  • 21
    • 0030780350 scopus 로고    scopus 로고
    • Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of a novel insertion mutation
    • Jackson M., Al-Chalabi A., Enayat Z.E., Chioza B., Leigh P.N., Morrison K.E. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol. 42:1997;803-807.
    • (1997) Ann Neurol , vol.42 , pp. 803-807
    • Jackson, M.1    Al-Chalabi, A.2    Enayat, Z.E.3    Chioza, B.4    Leigh, P.N.5    Morrison, K.E.6
  • 22
    • 0029974080 scopus 로고    scopus 로고
    • A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis
    • Hayward C., Swingler R.J., Simpson S.A., Brock D.J.H. A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis. Am J Hum Genet. 59:1996;1165-1167.
    • (1996) Am J Hum Genet , vol.59 , pp. 1165-1167
    • Hayward, C.1    Swingler, R.J.2    Simpson, S.A.3    Brock, D.J.H.4
  • 23
    • 0027944708 scopus 로고
    • Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
    • Jones C.T., Shaw P.J., Chari G., et al. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cell Probes. 8:1994;329-330.
    • (1994) Mol Cell Probes , vol.8 , pp. 329-330
    • Jones, C.T.1    Shaw, P.J.2    Chari, G.3
  • 24
    • 0031057003 scopus 로고    scopus 로고
    • Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
    • Cudkowicz M.E., McKennar-Yasek D., Sapp P.E., et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 41:1997;210-221.
    • (1997) Ann Neurol , vol.41 , pp. 210-221
    • Cudkowicz, M.E.1    McKennar-Yasek, D.2    Sapp, P.E.3
  • 25
    • 0031814006 scopus 로고    scopus 로고
    • Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc dismutase gene
    • Cudkowicz M.E., McKennar-Yasek D., Chen C., Hedley-Whyte E.T., Brown R.H. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc dismutase gene. Ann Neurol. 43:1998;703-710.
    • (1998) Ann Neurol , vol.43 , pp. 703-710
    • Cudkowicz, M.E.1    McKennar-Yasek, D.2    Chen, C.3    Hedley-Whyte, E.T.4    Brown, R.H.5
  • 26
    • 0030034545 scopus 로고    scopus 로고
    • SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis
    • Rouleau G.A., Clark A.W., Rooke K., et al. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann Neurol. 39:1996;128-131.
    • (1996) Ann Neurol , vol.39 , pp. 128-131
    • Rouleau, G.A.1    Clark, A.W.2    Rooke, K.3
  • 27
    • 0028598738 scopus 로고
    • "sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance
    • Suthers G., Laing N., Wilton S., Dorosz S., Waddy H. "Sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance. Lancet. 344:1994;1773.
    • (1994) Lancet , vol.344 , pp. 1773
    • Suthers, G.1    Laing, N.2    Wilton, S.3    Dorosz, S.4    Waddy, H.5
  • 28
    • 0031215411 scopus 로고    scopus 로고
    • A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity
    • Kikugawa K., Nakano R., Inuzuka T., et al. A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity. Japan Neurogenetics. 1:1997;113-115.
    • (1997) Japan Neurogenetics , vol.1 , pp. 113-115
    • Kikugawa, K.1    Nakano, R.2    Inuzuka, T.3
  • 29
    • 0028343223 scopus 로고
    • A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis
    • Rosen D.R., Bowling A.C., Patterson D., et al. A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet. 3:1994;981-987.
    • (1994) Hum Mol Genet , vol.3 , pp. 981-987
    • Rosen, D.R.1    Bowling, A.C.2    Patterson, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.