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Volumn 7, Issue 3, 1997, Pages 202-207

Spinal muscular atrophy - Clinical and genetic correlations

Author keywords

Classification; Deletion findings; Natural history; SMA variants; Spinal muscular atrophy

Indexed keywords

ARTICLE; CHROMOSOME 5Q; CLINICAL FEATURE; DISEASE COURSE; GENE DELETION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; MOTONEURON; ONSET AGE; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; PROBABILITY; SPINAL MUSCULAR ATROPHY; SURVIVAL RATE; WALKING;

EID: 0030976172     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00459-8     Document Type: Article
Times cited : (99)

References (35)
  • 1
    • 0025260440 scopus 로고
    • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
    • J Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990;344:540-541.
    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowicz, L.M.1    Lehner, T.2    Castilla, L.H.3
  • 2
    • 0025319713 scopus 로고
    • Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
    • Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-768.
    • (1990) Nature , vol.344 , pp. 767-768
    • Melki, J.1    Abdelhak, S.2    Sheth, P.3
  • 3
    • 0342914522 scopus 로고
    • Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
    • Gilliam TC, Brzustowicz LM, Castilla LH, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;336:271-273.
    • (1990) Nature , vol.336 , pp. 271-273
    • Gilliam, T.C.1    Brzustowicz, L.M.2    Castilla, L.H.3
  • 4
    • 0025299356 scopus 로고
    • Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q12-q14
    • Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q12-q14. Lancet 1990;336:271-273.
    • (1990) Lancet , vol.336 , pp. 271-273
    • Melki, J.1    Sheth, P.2    Abdelhak, S.3
  • 5
    • 0001510209 scopus 로고
    • Meeting report
    • The International SMA consortium. Meeting report. Neuromusc Disord 1992;2:423-428.
    • (1992) Neuromusc Disord , vol.2 , pp. 423-428
  • 6
    • 0028797783 scopus 로고
    • Identification and characterization of spinal muscular atrophy-determining gene
    • Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of spinal muscular atrophy-determining gene. Cell 1995; 80:155-165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Bürglen, L.2    Reboullet, S.3
  • 7
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
    • Roy N, Mahadevan MS, McLean M, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-178.
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3
  • 8
    • 0028904953 scopus 로고
    • Natural history in proximal spinal muscular atrophy (SMA): Clinical analysis of 445 patients and suggestions for a modification of existing classifications
    • Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy (SMA): clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518-523.
    • (1995) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnik-Schöneborn, S.2
  • 9
    • 0031587699 scopus 로고    scopus 로고
    • A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients
    • Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sei 1997; 146:67-72.
    • (1997) J Neurol Sei , vol.146 , pp. 67-72
    • Zerres, K.1    Rudnik-Schöneborn, S.2    Forrest, E.3    Lusakowska, A.4    Borkowska, J.5    Hausmanowa-Petusewicz, I.6
  • 10
    • 0028067907 scopus 로고
    • The natural history of type I (severe) spinal muscular atrophy
    • Thomas N, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromusc Disord 1994;4:497-502.
    • (1994) Neuromusc Disord , vol.4 , pp. 497-502
    • Thomas, N.1    Dubowitz, V.2
  • 11
    • 0027997573 scopus 로고
    • The natural history of severe spinal muscular atrophy further evidence for clinical subtypes
    • Ignatius J. The natural history of severe spinal muscular atrophy further evidence for clinical subtypes. Neuromusc Disord 1994;4: 527-528.
    • (1994) Neuromusc Disord , vol.4 , pp. 527-528
    • Ignatius, J.1
  • 12
    • 0018165396 scopus 로고
    • A clinical and genetic study of spinal muscular atrophy of adult onset
    • Pearn J, Hudgson P, Wallon JN. A clinical and genetic study of spinal muscular atrophy of adult onset. Brain 1978;101:591-606.
    • (1978) Brain , vol.101 , pp. 591-606
    • Pearn, J.1    Hudgson, P.2    Wallon, J.N.3
  • 13
    • 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 1995;346:741-742.
    • (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
  • 15
    • 0005211841 scopus 로고    scopus 로고
    • Phenotype and genotype variation amongst adults with spinal muscular atrophy in the North of England
    • Duffey P, Jackson T, Curtis A, Shaw PJ, Bushby K. Phenotype and genotype variation amongst adults with spinal muscular atrophy in the North of England. Neuromusc Disord (Suppl) 1996:836.
    • (1996) Neuromusc Disord (Suppl) , pp. 836
    • Duffey, P.1    Jackson, T.2    Curtis, A.3    Shaw, P.J.4    Bushby, K.5
  • 16
    • 0017883807 scopus 로고
    • Autosomal dominant spinal muscular atrophy
    • Pearn J. Autosomal dominant spinal muscular atrophy. J Neurol Sei 1978;38:263-275.
    • (1978) J Neurol Sei , vol.38 , pp. 263-275
    • Pearn, J.1
  • 17
    • 0026327508 scopus 로고
    • Clinical variability of autosomal dominant spinal muscular atrophy
    • Rietschel M, Rudnik-Schöneborn S, Zerres K. Clinical variability of autosomal dominant spinal muscular atrophy. J Neurol Sei 1992:107: 65-73.
    • (1992) J Neurol Sei , vol.107 , pp. 65-73
    • Rietschel, M.1    Rudnik-Schöneborn, S.2    Zerres, K.3
  • 18
    • 0026023481 scopus 로고
    • No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers
    • Kausch K, Müller CR, Grimm T, et al. No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers. Hum Genet 1991:86:317-318.
    • (1991) Hum Genet , vol.86 , pp. 317-318
    • Kausch, K.1    Müller, C.R.2    Grimm, T.3
  • 19
    • 0029910539 scopus 로고    scopus 로고
    • Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations
    • Rudnik-Schöneborn S, Zerres K, Hahnen E. et al. Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. Am J Hum Genet 1996:59:1163-1165.
    • (1996) Am J Hum Genet , vol.59 , pp. 1163-1165
    • Rudnik-Schöneborn, S.1    Zerres, K.2    Hahnen, E.3
  • 21
    • 0028364781 scopus 로고
    • Genetic heterogeneity in spinal muscular atrophy: A linkage analysis-based assessment
    • MacKenzie AE, Jacob P, Surh L, Besner A. Genetic heterogeneity in spinal muscular atrophy: a linkage analysis-based assessment. Neurology 1994:44:919-924.
    • (1994) Neurology , vol.44 , pp. 919-924
    • MacKenzie, A.E.1    Jacob, P.2    Surh, L.3    Besner, A.4
  • 22
    • 0027489642 scopus 로고
    • Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy
    • Brustowicz LM, Mérette C, Kleyn PW, et al. Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy. Hum Hered 1993:43:380-387.
    • (1993) Hum Hered , vol.43 , pp. 380-387
    • Brustowicz, L.M.1    Mérette, C.2    Kleyn, P.W.3
  • 23
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5ql3 in autosomal recessive spinal muscular atrophy
    • Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5ql3 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4: 631-634.
    • (1995) Hum Mol Genet , vol.4 , pp. 631-634
    • Rodrigues, N.R.1    Owen, N.2    Talbot, K.3    Ignatius, J.4    Dubowitz, V.5    Davies, K.E.6
  • 25
    • 0030047445 scopus 로고    scopus 로고
    • Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrohy (SMA) families and correlation between number of copies of CBCD541 and SMA phenotype
    • Velasco E, Valero C, Valero A, Moreno F, Hernández-Chico C. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrohy (SMA) families and correlation between number of copies of CBCD541 and SMA phenotype. Hum Mol Genet 1996;5: 257-263.
    • (1996) Hum Mol Genet , vol.5 , pp. 257-263
    • Velasco, E.1    Valero, C.2    Valero, A.3    Moreno, F.4    Hernández-Chico, C.5
  • 26
    • 0029899674 scopus 로고    scopus 로고
    • Molekulargenetische Diagnose und Deletionsanalyse bei spinaler Muskelatrophie Typ I-III
    • !996
    • Spiegel R, Hagmann A, Boltshauser E, Moser H. Molekulargenetische Diagnose und Deletionsanalyse bei spinaler Muskelatrophie Typ I-III. Schweiz Med Wochenschr !996;126:907-914.
    • Schweiz Med Wochenschr , vol.126 , pp. 907-914
    • Spiegel, R.1    Hagmann, A.2    Boltshauser, E.3    Moser, H.4
  • 27
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
    • Hahnen E, Forkert R, Marke C, et al. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995:4:1927-1933.
    • (1995) Hum Mol Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3
  • 28
    • 13344278692 scopus 로고    scopus 로고
    • Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes
    • Liston P, Roy N, Tamai K, et al. Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes. Nature 1996:379:349-353.
    • (1996) Nature , vol.379 , pp. 349-353
    • Liston, P.1    Roy, N.2    Tamai, K.3
  • 29
    • 85030297013 scopus 로고    scopus 로고
    • Strong correlation between the survival motor neuron (SMN) protein level and SMA phenotypes
    • abstract
    • Lefebvre S. Burlet P, Bertrandy S, et al. Strong correlation between the survival motor neuron (SMN) protein level and SMA phenotypes. Neuromusc Disord (Suppl) 1996:530 (abstract).
    • (1996) Neuromusc Disord (Suppl) , vol.530
    • Lefebvre, S.1    Burlet, P.2    Bertrandy, S.3
  • 30
    • 0028108143 scopus 로고
    • Evidence of autosomal dominant mutations in childhood-onset spinal muscular atrophy
    • Rudnik-Schöneborn S. Wirth B, Zerres K. Evidence of autosomal dominant mutations in childhood-onset spinal muscular atrophy. Am J Hum Genet 1994;55:112-119.
    • (1994) Am J Hum Genet , vol.55 , pp. 112-119
    • Rudnik-Schöneborn, S.1    Wirth, B.2    Zerres, K.3
  • 31
    • 0028206815 scopus 로고
    • Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender and genetic implications
    • Rudnik-Schöneborn S, Morgan G, Röhrig D. Zerres K. Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender and genetic implications. Am J Med Genet 1994;51:70-76.
    • (1994) Am J Med Genet , vol.51 , pp. 70-76
    • Rudnik-Schöneborn, S.1    Morgan, G.2    Röhrig, D.3    Zerres, K.4
  • 33
    • 0029926857 scopus 로고    scopus 로고
    • Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further deleniation on the basis of SMN gene deletion findings
    • Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further deleniation on the basis of SMN gene deletion findings. Neuropediatrics 1996;27:8-15.
    • (1996) Neuropediatrics , vol.27 , pp. 8-15
    • Rudnik-Schöneborn, S.1    Forkert, R.2    Hahnen, E.3    Wirth, B.4    Zerres, K.5
  • 34
    • 33847445046 scopus 로고    scopus 로고
    • SMN gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association
    • abstract
    • Bürglen L, Amiel J, Viollet L, et al. SMN gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. Neuromusc Disord (Suppl) 1996;S38 (abstract).
    • (1996) Neuromusc Disord (Suppl) , vol.38
    • Bürglen, L.1    Amiel, J.2    Viollet, L.3
  • 35
    • 0025310718 scopus 로고
    • Spinal muscular atrophy type I combined with atrial septal defect in 3 sibs
    • Moller P, Moe N, Saugstadt OD, et al. Spinal muscular atrophy type I combined with atrial septal defect in 3 sibs. Clin Genet 1990:38: 81-83.
    • (1990) Clin Genet , vol.38 , pp. 81-83
    • Moller, P.1    Moe, N.2    Saugstadt, O.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.