메뉴 건너뛰기




Volumn 62, Issue 7, 2005, Pages 1118-1121

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia

Author keywords

[No Author keywords available]

Indexed keywords

ATLASTIN; PROTEIN; SPASTIN; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATASE; GUANOSINE TRIPHOSPHATASE; SPAST PROTEIN, HUMAN; SPG3A PROTEIN, HUMAN;

EID: 22844452809     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.7.1118     Document Type: Article
Times cited : (30)

References (27)
  • 1
    • 8944250670 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: Advances in genetic research: Hereditary Spastic Paraplegia Working group
    • Fink JK, Heiman-Patterson T, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research: Hereditary Spastic Paraplegia Working group. Neurology. 1996;46:1507-1514.
    • (1996) Neurology , vol.46 , pp. 1507-1514
    • Fink, J.K.1    Heiman-Patterson, T.2    Bird, T.3
  • 2
    • 0030977483 scopus 로고    scopus 로고
    • Pure hereditary spastic paraplegia
    • Reid E. Pure hereditary spastic paraplegia. J Med Genet. 1997;34:499-503.
    • (1997) J Med Genet , vol.34 , pp. 499-503
    • Reid, E.1
  • 4
    • 0020641096 scopus 로고
    • Classification of the hereditary ataxias and paraplegias
    • Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983;1:1151-1155.
    • (1983) Lancet , vol.1 , pp. 1151-1155
    • Harding, A.E.1
  • 5
    • 0034895430 scopus 로고    scopus 로고
    • Recent advances in hereditary spastic paraplegia
    • Tallaksen CM, Durr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr Opin Neurol. 2001;14:457-463.
    • (2001) Curr Opin Neurol , vol.14 , pp. 457-463
    • Tallaksen, C.M.1    Durr, A.2    Brice, A.3
  • 6
    • 0036267195 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia: The pace quickens
    • Fink JK. Hereditary spastic paraplegia: the pace quickens. Ann Neurol. 2002;51:669-672.
    • (2002) Ann Neurol , vol.51 , pp. 669-672
    • Fink, J.K.1
  • 7
    • 0032721512 scopus 로고    scopus 로고
    • Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
    • Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999;23:296-303.
    • (1999) Nat Genet , vol.23 , pp. 296-303
    • Hazan, J.1    Fonknechten, N.2    Mavel, D.3
  • 8
    • 0035184654 scopus 로고    scopus 로고
    • Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
    • Zhao X, Alvarado D, Rainier S, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet. 2001;29:326-331.
    • (2001) Nat Genet , vol.29 , pp. 326-331
    • Zhao, X.1    Alvarado, D.2    Rainier, S.3
  • 9
    • 0033781121 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia caused by mutations in the SPG4 gene
    • Burger J, Fonknechten N, Hoeltzenbein M, et al. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet. 2000;8:771-776.
    • (2000) Eur J Hum Genet , vol.8 , pp. 771-776
    • Burger, J.1    Fonknechten, N.2    Hoeltzenbein, M.3
  • 11
    • 0034163576 scopus 로고    scopus 로고
    • Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
    • Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet. 2000;9:637-644.
    • (2000) Hum Mol Genet , vol.9 , pp. 637-644
    • Fonknechten, N.1    Mavel, D.2    Byrne, P.3
  • 12
    • 0034649471 scopus 로고    scopus 로고
    • Novel mutations in spastin gene and absence of correlation with age at onset of symptoms
    • Hentati A, Deng HX, Zhai H, et al. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology. 2000;55:1388-1390.
    • (2000) Neurology , vol.55 , pp. 1388-1390
    • Hentati, A.1    Deng, H.X.2    Zhai, H.3
  • 13
    • 0035849566 scopus 로고    scopus 로고
    • An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia
    • Higgins JJ, Loveless JM, Goswami S, et al. An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia. Neurology. 2001;56:1482-1485.
    • (2001) Neurology , vol.56 , pp. 1482-1485
    • Higgins, J.J.1    Loveless, J.M.2    Goswami, S.3
  • 14
    • 0033782943 scopus 로고    scopus 로고
    • Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
    • Lindsey JC, Lusher ME, McDermott CJ, et al. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet. 2000;37:759-765.
    • (2000) J Med Genet , vol.37 , pp. 759-765
    • Lindsey, J.C.1    Lusher, M.E.2    McDermott, C.J.3
  • 15
    • 0035869256 scopus 로고    scopus 로고
    • A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: A clinical and genetic study
    • Namekawa M, Takiyama Y, Sakoe K, et al. A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study. J Neurol Sci. 2001;185:63-68.
    • (2001) J Neurol Sci , vol.185 , pp. 63-68
    • Namekawa, M.1    Takiyama, Y.2    Sakoe, K.3
  • 16
    • 0033821055 scopus 로고    scopus 로고
    • Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation
    • Santorelli FM, Patrono C, Fortini D, et al. Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. Neurology. 2000;55:702-705.
    • (2000) Neurology , vol.55 , pp. 702-705
    • Santorelli, F.M.1    Patrono, C.2    Fortini, D.3
  • 17
    • 0037168428 scopus 로고    scopus 로고
    • SPG3A: An additional family carrying a new atlastin mutation
    • Tessa A, Casali C, Damiano M, et al. SPG3A: an additional family carrying a new atlastin mutation. Neurology. 2002;59:2002-2005.
    • (2002) Neurology , vol.59 , pp. 2002-2005
    • Tessa, A.1    Casali, C.2    Damiano, M.3
  • 18
    • 0036260824 scopus 로고    scopus 로고
    • Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
    • Muglia M, Magariello A, Nicoletti G, et al. Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. Ann Neurol. 2002;51:794-795.
    • (2002) Ann Neurol , vol.51 , pp. 794-795
    • Muglia, M.1    Magariello, A.2    Nicoletti, G.3
  • 19
    • 1542783703 scopus 로고    scopus 로고
    • Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
    • Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat. 2004;23:98.
    • (2004) Hum Mutat , vol.23 , pp. 98
    • Sauter, S.M.1    Engel, W.2    Neumann, L.M.3    Kunze, J.4    Neesen, J.5
  • 20
    • 0242523160 scopus 로고    scopus 로고
    • SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia
    • Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH. SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J Neurol Sci. 2003;216:43-45.
    • (2003) J Neurol Sci , vol.216 , pp. 43-45
    • Wilkinson, P.A.1    Hart, P.E.2    Patel, H.3    Warner, T.T.4    Crosby, A.H.5
  • 21
    • 18544368075 scopus 로고    scopus 로고
    • A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
    • Ki CS, Lee WY, Han do H, et al. A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia J Hum Genet. 2002;47:473-477.
    • (2002) J Hum Genet , vol.47 , pp. 473-477
    • Ki, C.S.1    Lee, W.Y.2    Han Do, H.3
  • 22
    • 0037105958 scopus 로고    scopus 로고
    • Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia
    • Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH. Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. J Neurol Sci. 2002;201:65-69.
    • (2002) J Neurol Sci , vol.201 , pp. 65-69
    • Proukakis, C.1    Hart, P.E.2    Cornish, A.3    Warner, T.T.4    Crosby, A.H.5
  • 23
    • 18444378149 scopus 로고    scopus 로고
    • Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
    • Sauter S, Miterski B, Klimpe S, et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat. 2002;20:127-132.
    • (2002) Hum Mutat , vol.20 , pp. 127-132
    • Sauter, S.1    Miterski, B.2    Klimpe, S.3
  • 24
    • 0035006836 scopus 로고    scopus 로고
    • Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
    • Svenson IK, Ashley-Koch AE, Gaskell PC, et al. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet. 2001;68:1077-1085.
    • (2001) Am J Hum Genet , vol.68 , pp. 1077-1085
    • Svenson, I.K.1    Ashley-Koch, A.E.2    Gaskell, P.C.3
  • 25
    • 0034719042 scopus 로고    scopus 로고
    • Phenotype of AD-HSP due to mutations in the SPAST gene: Comparison with AD-HSP without mutations
    • McMonagle P, Byrne PC, Fitzgerald B, Webb S, Parfrey NA, Hutchinson M. Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations. Neurology. 2000;55:1794-1800.
    • (2000) Neurology , vol.55 , pp. 1794-1800
    • McMonagle, P.1    Byrne, P.C.2    Fitzgerald, B.3    Webb, S.4    Parfrey, N.A.5    Hutchinson, M.6
  • 27
    • 9144223076 scopus 로고    scopus 로고
    • Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia
    • Tang B, Zhao G, Xia K, et al. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Arch Neurol. 2004;61:49-55.
    • (2004) Arch Neurol , vol.61 , pp. 49-55
    • Tang, B.1    Zhao, G.2    Xia, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.