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Volumn 59, Issue 9, 2002, Pages 1395-1401

Clinical and genetic study of a large Italian family linked to SPG12 locus

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 19Q; CLINICAL ARTICLE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC LINKAGE; GENETIC RECOMBINATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; ITALY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0037069247     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000031423.43482.19     Document Type: Article
Times cited : (30)

References (41)
  • 2
    • 0019777963 scopus 로고
    • Hereditary 'pure' spastic paraplegia: A clinical and genetic study of 22 families
    • Harding AE. Hereditary 'pure' spastic paraplegia: A clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981;44:871-883.
    • (1981) J Neurol Neurosurg Psychiatry , vol.44 , pp. 871-883
    • Harding, A.E.1
  • 3
    • 0032750048 scopus 로고    scopus 로고
    • The hereditary spastic paraplegias
    • Reid E. The hereditary spastic paraplegias. J Neurol 1999;246:995-1003.
    • (1999) J Neurol , vol.246 , pp. 995-1003
    • Reid, E.1
  • 4
    • 0027363223 scopus 로고
    • Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
    • Hazan J, Lamy C, Melki J, et al. 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
  • 5
    • 17444432925 scopus 로고    scopus 로고
    • Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
    • Paternotte C, Rudnicki D, Fizames C, et al. Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. Genome Res 1998;8:1216-1227.
    • (1998) Genome Res , vol.8 , pp. 1216-1227
    • Paternotte, C.1    Rudnicki, D.2    Fizames, C.3
  • 6
    • 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
  • 7
    • 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
  • 8
    • 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
  • 9
    • 0033544418 scopus 로고    scopus 로고
    • Autosomal dominant spastic paraplegia: Refined SPG8 locus and additional genetic heterogeneity
    • Reid E, Dearlove AM, Whiteford ML, et al. Autosomal dominant spastic paraplegia: Refined SPG8 locus and additional genetic heterogeneity. Neurology 1999;53:1844-1849.
    • (1999) Neurology , vol.53 , pp. 1844-1849
    • Reid, E.1    Dearlove, A.M.2    Whiteford, M.L.3
  • 10
    • 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
  • 11
    • 0033912567 scopus 로고    scopus 로고
    • A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
    • Fontaine B, Davoine CS, Dörr A, et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 1999;66:702-707.
    • (1999) Am J Hum Genet , vol.66 , pp. 702-707
    • Fontaine, B.1    Davoine, C.S.2    Dörr, A.3
  • 12
    • 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;9:1569-1573.
    • (1994) Hum Mol Genet , vol.9 , pp. 1569-1573
    • Hazan, J.1    Fontaine, B.2    Bruyn, R.P.3
  • 13
    • 0033912569 scopus 로고    scopus 로고
    • A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13
    • Reid E, Dearlove AM, Osborn O, et al. 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
  • 14
    • 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
  • 15
    • 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;29:326-31.
    • (2001) Nat Genet , vol.29 , pp. 326-331
    • Zhao, X.1    Alvarado, D.2    Rainier, S.3
  • 16
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93:973-983.
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3
  • 18
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-760.
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.I.2    Liang, Y.3
  • 19
    • 0032547369 scopus 로고    scopus 로고
    • Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity
    • Rogaeva E, Premkumar S, Song Y, et al. Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. JAMA 1998;280:614-618.
    • (1998) JAMA , vol.280 , pp. 614-618
    • Rogaeva, E.1    Premkumar, S.2    Song, Y.3
  • 20
    • 0024602536 scopus 로고
    • Estimating the power of a proposed linkage study for a complex genetic trait
    • Ploughman LM, Boehnke M. Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 1989;44:543-551.
    • (1989) Am J Hum Genet , vol.44 , pp. 543-551
    • Ploughman, L.M.1    Boehnke, M.2
  • 21
    • 0029946879 scopus 로고    scopus 로고
    • Faster linkage analysis computations for pedigree with loops or unused alleles
    • Schaffer AA. Faster linkage analysis computations for pedigree with loops or unused alleles. Hum Hered 1996;46:226-235.
    • (1996) Hum Hered , vol.46 , pp. 226-235
    • Schaffer, A.A.1
  • 23
    • 0031973716 scopus 로고    scopus 로고
    • Related ATPases with diverse functions
    • The AAA team
    • Patel S, Latterich M. The AAA team. Related ATPases with diverse functions. Trends Cell Biol 1998;8:65-71.
    • (1998) Trends Cell Biol , vol.8 , pp. 65-71
    • Patel, S.1    Latterich, M.2
  • 24
    • 0030881249 scopus 로고    scopus 로고
    • Genotator: A workbench for sequence annotation
    • Harris NL. Genotator: A workbench for sequence annotation. Genome Res 1997;7:754-762.
    • (1997) Genome Res , vol.7 , pp. 754-762
    • Harris, N.L.1
  • 25
    • 18044401375 scopus 로고    scopus 로고
    • Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia
    • Ashley-Koch A, Bonner ER, Gaskell PC, et al. Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. Neurogenetics 2001;3:91-97.
    • (2001) Neurogenetics , vol.3 , pp. 91-97
    • Ashley-Koch, A.1    Bonner, E.R.2    Gaskell, P.C.3
  • 26
    • 0013923447 scopus 로고
    • Familial spastic paraplegia with amyotrophy of the hands
    • Silver JR. Familial spastic paraplegia with amyotrophy of the hands. Ann Hum Genet 1966;30:69-75.
    • (1966) Ann Hum Genet , vol.30 , pp. 69-75
    • Silver, J.R.1
  • 27
    • 0029737834 scopus 로고    scopus 로고
    • Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family
    • Burger J, Metzke H, Paternotte C, et al. Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family. Hum Genet 1996;98:371-375.
    • (1996) Hum Genet , vol.98 , pp. 371-375
    • Burger, J.1    Metzke, H.2    Paternotte, C.3
  • 28
    • 0031215402 scopus 로고    scopus 로고
    • Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia
    • Scott WK, Gaskell PC, Lennon F, et al. Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. Neurogenetics 1997;1:95-102.
    • (1997) Neurogenetics , vol.1 , pp. 95-102
    • Scott, W.K.1    Gaskell, P.C.2    Lennon, F.3
  • 29
    • 0031971694 scopus 로고    scopus 로고
    • Autosomal dominant pure spastic paraplegia: A clinical, paraclinical, and genetic study
    • Nielsen JE, Krabbe K, Jennum P, et al. Autosomal dominant pure spastic paraplegia: A clinical, paraclinical, and genetic study. J Neurol Neurosurg Psychiatry 1998;64:61-66.
    • (1998) J Neurol Neurosurg Psychiatry , vol.64 , pp. 61-66
    • Nielsen, J.E.1    Krabbe, K.2    Jennum, P.3
  • 30
    • 0032836131 scopus 로고    scopus 로고
    • Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families
    • Reid E, Grayson C, Rogers MT, Rubinsztein DC. Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families. Brain 1999;122:1741-1755.
    • (1999) Brain , vol.122 , pp. 1741-1755
    • Reid, E.1    Grayson, C.2    Rogers, M.T.3    Rubinsztein, D.C.4
  • 33
    • 0031960546 scopus 로고    scopus 로고
    • Statistical evaluation of age-at-onset anticipation: A new test and evaluation of its behavior in realistic applications
    • Vieland VJ, Huang J. Statistical evaluation of age-at-onset anticipation: A new test and evaluation of its behavior in realistic applications. Am J Hum Genet 1998;62:1212-1227.
    • (1998) Am J Hum Genet , vol.62 , pp. 1212-1227
    • Vieland, V.J.1    Huang, J.2
  • 34
    • 0035205478 scopus 로고    scopus 로고
    • Ascertainment and anticipation in family studies
    • Hoh J, Heitjan DF, Merette C, Ott J. Ascertainment and anticipation in family studies. Hum Hered 2001;51:23-26.
    • (2001) Hum Hered , vol.51 , pp. 23-26
    • Hoh, J.1    Heitjan, D.F.2    Merette, C.3    Ott, J.4
  • 35
    • 0031458752 scopus 로고    scopus 로고
    • A new statistical test for age-of-onset anticipation: Application to bipolar disorder
    • Huang J, Vieland V. A new statistical test for age-of-onset anticipation: Application to bipolar disorder. Genet Epidemiol 1997;14:1091-1096.
    • (1997) Genet Epidemiol , vol.14 , pp. 1091-1096
    • Huang, J.1    Vieland, V.2
  • 36
    • 0033551507 scopus 로고    scopus 로고
    • Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q
    • Hedera P, Di Mauro S, Bonilla E, et al. Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q. Neurology 1999;53:44-50.
    • (1999) Neurology , vol.53 , pp. 44-50
    • Hedera, P.1    Di Mauro, S.2    Bonilla, E.3
  • 37
    • 10344241450 scopus 로고    scopus 로고
    • Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
    • Dürr A, Davoine CS, Paternotte C, et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 1996;119:1487-1496.
    • (1996) Brain , vol.119 , pp. 1487-1496
    • Dürr, A.1    Davoine, C.S.2    Paternotte, C.3
  • 38
    • 0031921995 scopus 로고    scopus 로고
    • Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21
    • Nance MA, Raabe WA, Midani H, et al. Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Hum Hered 1998;48:169-178.
    • (1998) Hum Hered , vol.48 , pp. 169-178
    • Nance, M.A.1    Raabe, W.A.2    Midani, H.3
  • 39
    • 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
  • 40
    • 0032880071 scopus 로고    scopus 로고
    • Subclinical cognitive impairment in autosomal dominant hereditary spastic paraplegia
    • Reid E, Grayson C, Rubinsztein DC, Rogers MT, Rubinsztein JS. Subclinical cognitive impairment in autosomal dominant hereditary spastic paraplegia. J Med Genet 1999;36:797-798.
    • (1999) J Med Genet , vol.36 , pp. 797-798
    • Reid, E.1    Grayson, C.2    Rubinsztein, D.C.3    Rogers, M.T.4    Rubinsztein, J.S.5
  • 41
    • 0035232239 scopus 로고    scopus 로고
    • A draft annotation and overview of the human genome
    • preprint 0001.1-0001.40
    • Wright FA, Lemon WJ, Zhao WD, et al. A draft annotation and overview of the human genome. Genome Biology 2001;2:preprint 0001.1-0001.40.
    • (2001) Genome Biology , vol.2
    • Wright, F.A.1    Lemon, W.J.2    Zhao, W.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.