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Volumn 169, Issue 1-2, 1999, Pages 49-55

Motor system abnormalities in heterozygous relatives of a D90A homozygous CuZn-SOD ALS patient of Finnish extraction

Author keywords

Benign focal amyotrophy; D90A (Asp90Ala) CuZn SOD mutation; Familial amyotrophic lateral sclerosis; Motor neuron disease

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

EID: 0032692215     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00215-4     Document Type: Article
Times cited : (11)

References (41)
  • 1
    • 0015759406 scopus 로고
    • Epidemiology of motor-neuron diseases
    • Bobowick A.R., Brody J.A. Epidemiology of motor-neuron diseases. New Engl J Med. 288:1973;1047-1055.
    • (1973) New Engl J Med , vol.288 , pp. 1047-1055
    • Bobowick, A.R.1    Brody, J.A.2
  • 3
    • 0029037348 scopus 로고
    • Natural history of amyotrophic lateral sclerosis in a database population
    • Haverkamp L.J., Appel V., Appel S.H. Natural history of amyotrophic lateral sclerosis in a database population. Brain. 118:1995;707-719.
    • (1995) Brain , vol.118 , pp. 707-719
    • Haverkamp, L.J.1    Appel, V.2    Appel, S.H.3
  • 4
    • 0022443737 scopus 로고
    • Familial adult motor neuron disease: Amyotrophic lateral sclerosis
    • Mulder D.W., Kurland L.T., Offord K.P., Beard C.M. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology. 36:1986;511-517.
    • (1986) Neurology , vol.36 , pp. 511-517
    • Mulder, D.W.1    Kurland, L.T.2    Offord, K.P.3    Beard, C.M.4
  • 5
    • 0031057003 scopus 로고    scopus 로고
    • Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
    • Cudkowicz M.E., McKenna-Vasek D., Sapp P.E., et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 2:1997;210-221.
    • (1997) Ann Neurol , vol.2 , pp. 210-221
    • Cudkowicz, M.E.1    McKenna-Vasek, D.2    Sapp, P.E.3
  • 6
    • 0030749160 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in MND patients with CuZn-superoxide dismutase mutations in Scandinavia
    • Andersen P.M., Nilsson P., Keränen M.-L., et al. Phenotypic heterogeneity in MND patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain. 10:1997;1723-1737.
    • (1997) Brain , vol.10 , pp. 1723-1737
    • Andersen, P.M.1    Nilsson, P.2    Keränen, M.-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
    • 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
  • 9
    • 0031854283 scopus 로고    scopus 로고
    • Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis
    • Boukaftane Y., Khoris J., Moulard B., et al. Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci. 25:1998;192-196.
    • (1998) Can J Neurol Sci , vol.25 , pp. 192-196
    • Boukaftane, Y.1    Khoris, J.2    Moulard, B.3
  • 10
    • 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
  • 11
    • 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 P.M., 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. 119:1996;1153-1172.
    • (1996) Brain , vol.119 , pp. 1153-1172
    • Andersen, P.M.1    Forsgren, L.2    Binzer, M.3
  • 12
    • 0003971127 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis and CuZn-superoxide dismutase
    • Doctoral thesis, Umeå University, Umeå
    • Andersen PM. Amyotrophic lateral sclerosis and CuZn-superoxide dismutase. A clinical, genetic and enzymatic study. Doctoral thesis, Umeå University, Umeå, 1997.
    • (1997) A Clinical, Genetic and Enzymatic Study
    • Andersen, P.M.1
  • 13
    • 0029010496 scopus 로고
    • Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
    • Andersen P.M., Nilsson P., Ala-Hurula V., et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet. 10:1995;61-66.
    • (1995) Nat Genet , vol.10 , pp. 61-66
    • Andersen, P.M.1    Nilsson, P.2    Ala-Hurula, V.3
  • 14
    • 0029854883 scopus 로고    scopus 로고
    • D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
    • Robberecht W., Aguirre T., Bosch L.V.D., Tilkin P., Cassiman J.J., Matthijs G. D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology. 47:1996;1336-1339.
    • (1996) Neurology , vol.47 , pp. 1336-1339
    • Robberecht, W.1    Aguirre, T.2    Bosch, L.V.D.3    Tilkin, P.4    Cassiman, J.J.5    Matthijs, G.6
  • 15
    • 0005366063 scopus 로고    scopus 로고
    • Atypical familial amyotrophic lateral sclerosis (abstract)
    • Kaplan J.P., Brooks B.R., Mitsumoto H., et al. Atypical familial amyotrophic lateral sclerosis (abstract). Am J Hum Genet. 59:(Suppl 1534):1996;A265.
    • (1996) Am J Hum Genet , vol.59 , Issue.SUPPL. 1534 , pp. 265
    • Kaplan, J.P.1    Brooks, B.R.2    Mitsumoto, H.3
  • 16
    • 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
  • 17
    • 0029400840 scopus 로고
    • Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the CuZn-superoxide dismutase gene
    • Ikeda M., Abe K., Aoki M., et al. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the CuZn-superoxide dismutase gene. Neurology. 45:1995;2038-2042.
    • (1995) Neurology , vol.45 , pp. 2038-2042
    • Ikeda, M.1    Abe, K.2    Aoki, M.3
  • 19
    • 0028106044 scopus 로고
    • Familial amyotrophic lateral sclerosis with a mutation in the CuZn-SOD superoxide dismutase gene
    • Takahashi H., Makifuchi T., Nakano R., et al. Familial amyotrophic lateral sclerosis with a mutation in the CuZn-SOD superoxide dismutase gene. Acta Neuropathol. 88:1994;185-188.
    • (1994) Acta Neuropathol , vol.88 , pp. 185-188
    • Takahashi, H.1    Makifuchi, T.2    Nakano, R.3
  • 20
    • 0029927679 scopus 로고    scopus 로고
    • Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement
    • Shibata N., Hirano A., Kobayashi M., et al. Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement. J Neuropathol Exp Neurol. 55:1996;481-490.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 481-490
    • Shibata, N.1    Hirano, A.2    Kobayashi, M.3
  • 21
    • 0029840428 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1 gene: Multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes
    • Kato S., Shimoda M., Watanabe Y., Nakashima K., Takahashi K., Ohama E. Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1 gene: multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes. J Neuropathol Exp Neurol. 55:(10):1996;1089-1101.
    • (1996) J Neuropathol Exp Neurol , vol.55 , Issue.10 , pp. 1089-1101
    • Kato, S.1    Shimoda, M.2    Watanabe, Y.3    Nakashima, K.4    Takahashi, K.5    Ohama, E.6
  • 22
    • 0031723557 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: Molecular pathology of five cases, and comparison with previous reports and 73 sporadic cases of ALS
    • Ince P.G., Tomkins J., Slade J.Y., Thatcher N.M., Shaw P.J. Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol. 10:1998;895-904.
    • (1998) J Neuropathol Exp Neurol , vol.10 , pp. 895-904
    • Ince, P.G.1    Tomkins, J.2    Slade, J.Y.3    Thatcher, N.M.4    Shaw, P.J.5
  • 23
    • 0029080304 scopus 로고
    • Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: Intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles
    • Orrell R.W., King A.W., Hilton D.A., Campbell M.J., Lane R.J.M., Belleroche J.Sd. Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: 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    Campbell, M.J.4    Lane, R.J.M.5    Belleroche, J.sd.6
  • 24
    • 0031960868 scopus 로고    scopus 로고
    • Homozygosity of Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis
    • Hayward C., Minns R.A., Swingler R.J., Brock D.J.H. Homozygosity of Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. J Med Genet. 2:1998;174.
    • (1998) J Med Genet , vol.2 , pp. 174
    • Hayward, C.1    Minns, R.A.2    Swingler, R.J.3    Brock, D.J.H.4
  • 25
    • 0028987929 scopus 로고
    • Superoxide dismutase (Glu100Gly) in a family with inherited motor neuron disease: Detection of mutant superoxide dismutase activity and the presence of heterodimers
    • Calder V.L., Domigan N.M., George P.M., Donalson I.M., Winterbourn C.C. Superoxide dismutase (Glu100Gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers. Neurosci Lett. 189:1995;143-146.
    • (1995) Neurosci Lett , vol.189 , pp. 143-146
    • Calder, V.L.1    Domigan, N.M.2    George, P.M.3    Donalson, I.M.4    Winterbourn, C.C.5
  • 26
    • 0029983886 scopus 로고    scopus 로고
    • Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations
    • Abe K., Aoki M., Ikeda M., Watanabe M., Hirai S., Itoyama Y. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci. 136:1996;108-116.
    • (1996) J Neurol Sci , vol.136 , pp. 108-116
    • Abe, K.1    Aoki, M.2    Ikeda, M.3    Watanabe, M.4    Hirai, S.5    Itoyama, Y.6
  • 27
    • 0032926368 scopus 로고    scopus 로고
    • Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis
    • Al-Chalabi A., Andersen P.M., Nilsson P., et al. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet. 8:1999;157-164.
    • (1999) Hum Mol Genet , vol.8 , pp. 157-164
    • Al-Chalabi, A.1    Andersen, P.M.2    Nilsson, P.3
  • 28
    • 0022364683 scopus 로고
    • Familial motor neuron disease with cases of amyotrophic lateral sclerosis and spinal muscular atrophy
    • Nakano T., Tsukuda N., Yanagisawa N., et al. Familial motor neuron disease with cases of amyotrophic lateral sclerosis and spinal muscular atrophy. Rinsho Shinkeigaku. 25:1985;1119-1125.
    • (1985) Rinsho Shinkeigaku , vol.25 , pp. 1119-1125
    • Nakano, T.1    Tsukuda, N.2    Yanagisawa, N.3
  • 29
    • 0026760076 scopus 로고
    • Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type I) in the same family
    • Shaw P.J., Ince P.G., Goodship J., et al. Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type I) in the same family. Neurology. 42:1992;1477-1480.
    • (1992) Neurology , vol.42 , pp. 1477-1480
    • Shaw, P.J.1    Ince, P.G.2    Goodship, J.3
  • 30
    • 0026655942 scopus 로고
    • Intrafamilial heterogeneity in heriditary motor neuron disease
    • Appelbaum J.S., Roos R.P., Salazar-Grueso E.F., et al. Intrafamilial heterogeneity in heriditary motor neuron disease. Neurology. 42:1992;1488-1492.
    • (1992) Neurology , vol.42 , pp. 1488-1492
    • Appelbaum, J.S.1    Roos, R.P.2    Salazar-Grueso, E.F.3
  • 31
    • 0026757680 scopus 로고
    • Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance
    • Boylan K.B., Cornblath D.R. Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance. Ann Neurol. 32:1992;404-407.
    • (1992) Ann Neurol , vol.32 , pp. 404-407
    • Boylan, K.B.1    Cornblath, D.R.2
  • 32
    • 0027245689 scopus 로고
    • Coexistence of ALS and Werdnig-Hoffmann disease within a family
    • Camu W., Billiard M. Coexistence of ALS and Werdnig-Hoffmann disease within a family. Muscle Nerve. 5:1993;569-570.
    • (1993) Muscle Nerve , vol.5 , pp. 569-570
    • Camu, W.1    Billiard, M.2
  • 34
    • 0028978717 scopus 로고
    • Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
    • Brahe C., Servidei S., Zappata S., Ricci E., Tonali P., Neri G. Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet. 346:1995;741-742.
    • (1995) Lancet , vol.346 , pp. 741-742
    • Brahe, C.1    Servidei, S.2    Zappata, S.3    Ricci, E.4    Tonali, P.5    Neri, G.6
  • 35
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
    • Roy N., Mahadevan M.S., McLean M., et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell. 80:1995;167-178.
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3
  • 36
    • 0030749689 scopus 로고    scopus 로고
    • Normal binding and reactivity of copper in mutant superoxide dismutase isolated from amyotrophic lateral sclerosis patients
    • Marklund S.L., Andersen P.M., Forsgren L., Nilsson P., Ohlsson P.-I., Wikander G., Öberg A. Normal binding and reactivity of copper in mutant superoxide dismutase isolated from amyotrophic lateral sclerosis patients. J Neurochem. 2:1997;675-681.
    • (1997) J Neurochem , vol.2 , pp. 675-681
    • Marklund, S.L.1    Andersen, P.M.2    Forsgren, L.3    Nilsson, P.4    Ohlsson, P.-I.5    Wikander, G.6    Öberg, A.7
  • 37
    • 0031914158 scopus 로고    scopus 로고
    • CuZn-superoxide dismutase, extracellular-superoxide dismutase and glutathione peroxidase in blood from individuals homozygous for the Asp90Ala CuZn-superoxide dismutase mutation
    • Andersen P.M., Nilsson P., Forsgren L., Marklund S.L. CuZn-superoxide dismutase, extracellular-superoxide dismutase and glutathione peroxidase in blood from individuals homozygous for the Asp90Ala CuZn-superoxide dismutase mutation. J Neurochem. 2:1998;715-720.
    • (1998) J Neurochem , vol.2 , pp. 715-720
    • Andersen, P.M.1    Nilsson, P.2    Forsgren, L.3    Marklund, S.L.4
  • 38
    • 0031949024 scopus 로고    scopus 로고
    • A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS
    • Morita M., Abe K., Takahashi M., et al. A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS. Eur J Neurol. 4:1998;389-392.
    • (1998) Eur J Neurol , vol.4 , pp. 389-392
    • Morita, M.1    Abe, K.2    Takahashi, M.3
  • 39
    • 0031728550 scopus 로고    scopus 로고
    • SOD1 aggregates in ALS: Cause, correlate or consequence?
    • Brown R.H. SOD1 aggregates in ALS: cause, correlate or consequence? Nature. 12:1998;1362-1365.
    • (1998) Nature , vol.12 , pp. 1362-1365
    • Brown, R.H.1
  • 40
    • 0030450004 scopus 로고    scopus 로고
    • CuZn superoxide dismutase gene mutations in ALS. Correlation between genotype and clinical features
    • Radunovic A., Leigh P.N. CuZn superoxide dismutase gene mutations in ALS. Correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry. 61:1996;565-572.
    • (1996) J Neurol Neurosurg Psychiatry , vol.61 , pp. 565-572
    • Radunovic, A.1    Leigh, P.N.2
  • 41
    • 7844227669 scopus 로고    scopus 로고
    • Recessive amyotrophic lateral sclerosis with the D90A SOD1 mutation shares a common founder: Evidence for a linked protective factor
    • Al-Chalabi A., Andersen P.M., Chioza B., et al. Recessive amyotrophic lateral sclerosis with the D90A SOD1 mutation shares a common founder: evidence for a linked protective factor. Hum Mol Genet. 13:1998;2045-2050.
    • (1998) Hum Mol Genet , vol.13 , pp. 2045-2050
    • Al-Chalabi, A.1    Andersen, P.M.2    Chioza, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.