메뉴 건너뛰기




Volumn 76, Issue 1, 2009, Pages 113-116

Identification of a new form of autosomal dominant spastic paraplegia

Author keywords

[No Author keywords available]

Indexed keywords

ATLASTIN; CHROMOSOME PROTEIN; SPASTIN; UNCLASSIFIED DRUG;

EID: 67650914293     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01122.x     Document Type: Letter
Times cited : (14)

References (25)
  • 1
    • 34447543943 scopus 로고    scopus 로고
    • The genetics of hereditary spastic paraplegia and implications for drug therapy
    • Zuchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. Expert Opin Pharmacother 2007: 8: 1433-1439.
    • (2007) Expert Opin Pharmacother , vol.8 , pp. 1433-1439
    • Zuchner, S.1
  • 2
    • 0027363223 scopus 로고
    • Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
    • Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 1993: 5: 163-167.
    • (1993) Nat Genet , vol.5 , pp. 163-167
    • Hazan, J.1    Lamy, C.2    Melki, J.3    Munnich, A.4    de Recondo, J.5    Weissenbach, J.6
  • 3
    • 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
  • 4
    • 0027981739 scopus 로고
    • Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
    • Hazan J, Fontaine B, Bruyn RP et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994: 3: 1569-1573.
    • (1994) Hum Mol Genet , vol.3 , pp. 1569-1573
    • Hazan, J.1    Fontaine, B.2    Bruyn, R.P.3
  • 5
    • 0028868126 scopus 로고
    • Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
    • Fink JK, Wu CT, Jones SM et al. Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q. Am J Hum Genet 1995: 56: 188-192.
    • (1995) Am J Hum Genet , vol.56 , pp. 188-192
    • Fink, J.K.1    Wu, C.T.2    Jones, S.M.3
  • 6
    • 0033073735 scopus 로고    scopus 로고
    • Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
    • Hedera P, Rainier S, Alvarado D et al. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet 1999: 64: 563-569.
    • (1999) Am J Hum Genet , vol.64 , pp. 563-569
    • Hedera, P.1    Rainier, S.2    Alvarado, D.3
  • 7
    • 0033069503 scopus 로고    scopus 로고
    • Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
    • Seri M, Cusano R, Forabosco P et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999: 64: 586-593.
    • (1999) Am J Hum Genet , vol.64 , pp. 586-593
    • Seri, M.1    Cusano, R.2    Forabosco, P.3
  • 8
    • 0033362081 scopus 로고    scopus 로고
    • A new locus for autosomal dominant "pure"hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity
    • Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. A new locus for autosomal dominant "pure"hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet 1999: 65: 757-763.
    • (1999) Am J Hum Genet , vol.65 , pp. 757-763
    • Reid, E.1    Dearlove, A.M.2    Rhodes, M.3    Rubinsztein, D.C.4
  • 9
    • 0033912569 scopus 로고    scopus 로고
    • A locus for autosomal dominant "pure"hereditary spastic paraplegia maps to chromosome 19q13
    • Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant "pure"hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 2000: 66: 728-732.
    • (2000) Am J Hum Genet , vol.66 , pp. 728-732
    • Reid, E.1    Dearlove, A.M.2    Osborn, O.3    Rogers, M.T.4    Rubinsztein, D.C.5
  • 10
    • 0033912567 scopus 로고    scopus 로고
    • A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
    • Fontaine B, Davoine CS, Durr A et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 2000: 66: 702-707.
    • (2000) Am J Hum Genet , vol.66 , pp. 702-707
    • Fontaine, B.1    Davoine, C.S.2    Durr, A.3
  • 11
    • 0035934020 scopus 로고    scopus 로고
    • Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci
    • Patel H, Hart PE, Warner T et al. Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. Am J Med Genet 2001: 102: 68-72.
    • (2001) Am J Med Genet , vol.102 , pp. 68-72
    • Patel, H.1    Hart, P.E.2    Warner, T.3
  • 12
    • 0034969438 scopus 로고    scopus 로고
    • The silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
    • Patel H, Hart PE, Warner TT et al. The silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet 2001: 69: 209-215.
    • (2001) Am J Hum Genet , vol.69 , pp. 209-215
    • Patel, H.1    Hart, P.E.2    Warner, T.T.3
  • 13
    • 0036260783 scopus 로고    scopus 로고
    • Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
    • Valente EM, Brancati F, Caputo V et al. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann Neurol 2002: 51: 681-685.
    • (2002) Ann Neurol , vol.51 , pp. 681-685
    • Valente, E.M.1    Brancati, F.2    Caputo, V.3
  • 15
    • 33646406586 scopus 로고    scopus 로고
    • A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12
    • Zuchner S, Kail ME, Nance MA et al. A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics 2006: 7: 127-129.
    • (2006) Neurogenetics , vol.7 , pp. 127-129
    • Zuchner, S.1    Kail, M.E.2    Nance, M.A.3
  • 16
    • 33746536549 scopus 로고    scopus 로고
    • ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia
    • Mannan AU, Krawen P, Sauter SM et al. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet 2006: 79: 351-357.
    • (2006) Am J Hum Genet , vol.79 , pp. 351-357
    • Mannan, A.U.1    Krawen, P.2    Sauter, S.M.3
  • 17
    • 35448961687 scopus 로고    scopus 로고
    • A novel locus for autosomal dominant "uncomplicated"hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
    • Hanein S, Durr A, Ribai P et al. A novel locus for autosomal dominant "uncomplicated"hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 2007: 122: 261-273.
    • (2007) Hum Genet , vol.122 , pp. 261-273
    • Hanein, S.1    Durr, A.2    Ribai, P.3
  • 18
    • 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
  • 19
    • 0142122897 scopus 로고    scopus 로고
    • Nipa1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
    • Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. Nipa1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 2003: 73: 967-971.
    • (2003) Am J Hum Genet , vol.73 , pp. 967-971
    • Rainier, S.1    Chai, J.H.2    Tokarz, D.3    Nicholls, R.D.4    Fink, J.K.5
  • 20
    • 33845991876 scopus 로고    scopus 로고
    • Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
    • Valdmanis PN, Meijer IA, Reynolds A et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 2007: 80: 152-161.
    • (2007) Am J Hum Genet , vol.80 , pp. 152-161
    • Valdmanis, P.N.1    Meijer, I.A.2    Reynolds, A.3
  • 21
    • 18644365196 scopus 로고    scopus 로고
    • A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
    • Reid E, Kloos M, Ashley-Koch A et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 2002: 71: 1189-1194.
    • (2002) Am J Hum Genet , vol.71 , pp. 1189-1194
    • Reid, E.1    Kloos, M.2    Ashley-Koch, A.3
  • 22
    • 0036241765 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin hsp60
    • Hansen JJ, Durr A, Cournu-Rebeix I et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin hsp60. Am J Hum Genet 2002: 70: 1328-1332.
    • (2002) Am J Hum Genet , vol.70 , pp. 1328-1332
    • Hansen, J.J.1    Durr, A.2    Cournu-Rebeix, I.3
  • 23
    • 10744229057 scopus 로고    scopus 로고
    • Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and silver syndrome
    • Windpassinger C, Auer-Grumbach M, Irobi J et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and silver syndrome. Nat Genet 2004: 36: 271-276.
    • (2004) Nat Genet , vol.36 , pp. 271-276
    • Windpassinger, C.1    Auer-Grumbach, M.2    Irobi, J.3
  • 24
    • 33746554263 scopus 로고    scopus 로고
    • Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
    • Zuchner S, Wang G, Tran-Viet KN et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 2006: 79: 365-369.
    • (2006) Am J Hum Genet , vol.79 , pp. 365-369
    • Zuchner, S.1    Wang, G.2    Tran-Viet, K.N.3
  • 25
    • 34547817056 scopus 로고    scopus 로고
    • The complex relation between genotype and phenotype in motor neuron disease
    • Canete-Soler R, Schlaepfer WW. The complex relation between genotype and phenotype in motor neuron disease. Ann Neurol 2007: 62: 8-14.
    • (2007) Ann Neurol , vol.62 , pp. 8-14
    • Canete-Soler, R.1    Schlaepfer, W.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.