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Volumn 70, Issue 21, 2008, Pages 1959-1966

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 4P; CLINICAL ARTICLE; COGNITIVE DEFECT; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; EVOKED SOMATOSENSORY RESPONSE; FEMALE; FRAMESHIFT MUTATION; FUNNEL CHEST; GENE FREQUENCY; GENE LOCUS; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; SYNDROME DELINEATION; TEMPORAL LOBE EPILEPSY; ALLELE; DOMINANT GENE; ELECTROMYOGRAPHY; FAMILY HEALTH; GENETICS; GENOMICS; NERVE CONDUCTION; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

EID: 44949220168     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000294330.27058.61     Document Type: Article
Times cited : (46)

References (45)
  • 1
    • 0027759812 scopus 로고
    • Hereditary spastic paraplegias
    • Harding AE. Hereditary spastic paraplegias. Semin Neurol 1993;13:333-336.
    • (1993) Semin Neurol , vol.13 , pp. 333-336
    • Harding, A.E.1
  • 2
    • 0030843168 scopus 로고    scopus 로고
    • Advances in hereditary spastic paraplegia
    • Fink JK. Advances in hereditary spastic paraplegia. Curr Opin Neurol 1997;10:313-318.
    • (1997) Curr Opin Neurol , vol.10 , pp. 313-318
    • Fink, J.K.1
  • 3
    • 85031355010 scopus 로고    scopus 로고
    • Invited Experts of the Sociedad Iberoamericana de Información Científica (SIIC) En Internet, Available at:, Accessed December 15, 2006
    • Orlacchio A, Patrono C, Orlacchio A, et al. Clinical and genetic studies in hereditary spastic paraplegia. Invited Experts of the Sociedad Iberoamericana de Información Científica (SIIC) En Internet 2006. Available at: http://www.siicsalud.com/dato/dat051/06d13002.htm. Accessed December 15, 2006.
    • (2006) Clinical and genetic studies in hereditary spastic paraplegia
    • Orlacchio, A.1    Patrono, C.2    Orlacchio, A.3
  • 4
    • 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
  • 5
    • 0000891109 scopus 로고
    • Familial spastic paraplegia with amyotrophy of the hands
    • Silver JR. Familial spastic paraplegia with amyotrophy of the hands. J Neurol Neurosurg Psychiatry 1966;29: 135-144.
    • (1966) J Neurol Neurosurg Psychiatry , vol.29 , pp. 135-144
    • Silver, J.R.1
  • 6
    • 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
  • 7
    • 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
  • 8
    • 0035934020 scopus 로고    scopus 로고
    • Silver syndrome is not linked to any of the previously established autoso-mal dominant hereditary spastic paraplegia loci
    • Patel H, Hart PE, Warner TT, et al. Silver syndrome is not linked to any of the previously established autoso-mal 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.T.3
  • 9
    • 0037069247 scopus 로고    scopus 로고
    • Clinical and genetic study of a large Italian family linked to SPG12 locus
    • Orlacchio A, Kawarai T, Rogaeva E, et al. Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 2002;59:1395-1401.
    • (2002) Neurology , vol.59 , pp. 1395-1401
    • Orlacchio, A.1    Kawarai, T.2    Rogaeva, E.3
  • 12
    • 2642589007 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
    • Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 1997;42:924-932.
    • (1997) Ann Neurol , vol.42 , pp. 924-932
    • Schöls, L.1    Amoiridis, G.2    Büttner, T.3    Przuntek, H.4    Epplen, J.T.5    Riess, O.6
  • 13
    • 0031019528 scopus 로고    scopus 로고
    • The relative value of facial, glossal, and masticatory muscles in the electrodiagnosis of amyotrophic lateral sclerosis
    • Preston DC, Shapiro BE, Raynor EM, Kothari MJ. The relative value of facial, glossal, and masticatory muscles in the electrodiagnosis of amyotrophic lateral sclerosis. Muscle Nerve 1997;20:370-372.
    • (1997) Muscle Nerve , vol.20 , pp. 370-372
    • Preston, D.C.1    Shapiro, B.E.2    Raynor, E.M.3    Kothari, M.J.4
  • 14
    • 0031971694 scopus 로고    scopus 로고
    • Autosomal dominant pure spastic paraplegia: A clinical, paraclini-cal, and genetic study
    • Nielsen JE, Krabbe K, Jennum P, et al. Autosomal dominant pure spastic paraplegia: a clinical, paraclini-cal, 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
  • 15
    • 0036240737 scopus 로고    scopus 로고
    • Electromyography of sternocleidomastoid muscle in ALS: A prospective study
    • Li J, Petajan J, Smith G, Bromberg M. Electromyography of sternocleidomastoid muscle in ALS: a prospective study. Muscle Nerve 2002;25:725-728.
    • (2002) Muscle Nerve , vol.25 , pp. 725-728
    • Li, J.1    Petajan, J.2    Smith, G.3    Bromberg, M.4
  • 16
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's disease
    • McKhann G, Drachman D, Folstein MF, Katzman R, Price D, Standlan EM. Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's disease. Neurology 1984;34:939-944.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.F.3    Katzman, R.4    Price, D.5    Standlan, E.M.6
  • 17
    • 0035195760 scopus 로고    scopus 로고
    • Current concepts in mild cognitive impairment
    • Petersen RC, Doody R, Kurz A, et al. Current concepts in mild cognitive impairment. Arch Neurol 2001;58: 1985-1992.
    • (2001) Arch Neurol , vol.58 , pp. 1985-1992
    • Petersen, R.C.1    Doody, R.2    Kurz, A.3
  • 18
    • 0023037928 scopus 로고
    • CAMDEX: A standardised instrument, for the diagnosis of mental disorders in the elderly with special reference to, the early detection of dementia
    • Roth M, Tym E, Mountjoy CQ, et al. CAMDEX: a standardised instrument, for the diagnosis of mental disorders in the elderly with special reference to, the early detection of dementia. Br J Psychiatry 1986;149: 698-709.
    • (1986) Br J Psychiatry , vol.149 , pp. 698-709
    • Roth, M.1    Tym, E.2    Mountjoy, C.Q.3
  • 19
    • 0031976287 scopus 로고    scopus 로고
    • Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p
    • Webb S, Coleman D, Byrne P, et al. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Brain 1998;121 (Pt 4):601- 609.
    • (1998) Brain , vol.121 , Issue.PART 4 , pp. 601-609
    • Webb, S.1    Coleman, D.2    Byrne, P.3
  • 20
    • 0041522717 scopus 로고    scopus 로고
    • Subtle cognitive impairment but no dementia in patients with spastin mutations
    • Tallaksen CM, Guichart-Gomez E, Verpillat P, et al. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol 2003;60: 1113-1118.
    • (2003) Arch Neurol , vol.60 , pp. 1113-1118
    • Tallaksen, C.M.1    Guichart-Gomez, E.2    Verpillat, P.3
  • 21
    • 26444610811 scopus 로고    scopus 로고
    • Clinical and genetic study of a large SPG4 Italian family
    • Orlacchio A, Kawarai T, Gaudiello F, et al. Clinical and genetic study of a large SPG4 Italian family. Mov Disord 2005;20:1055-1059.
    • (2005) Mov Disord , vol.20 , pp. 1055-1059
    • Orlacchio, A.1    Kawarai, T.2    Gaudiello, F.3
  • 22
    • 0032733205 scopus 로고    scopus 로고
    • Incidental detection of hippocampal sclerosis on MR Images: Is it significant?
    • Moore KR, Swallow CE, Tsuruda JS. Incidental detection of hippocampal sclerosis on MR Images: is it significant? AJNR Am J Neuroradiol 1999;20:1609-1612.
    • (1999) AJNR Am J Neuroradiol , vol.20 , pp. 1609-1612
    • Moore, K.R.1    Swallow, C.E.2    Tsuruda, J.S.3
  • 23
    • 0030728925 scopus 로고    scopus 로고
    • Allele-sharing models: LOD scores and accurate linkage tests
    • Kong A, Cox NJ. Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 1997;61: 1169-1178.
    • (1997) Am J Hum Genet , vol.61 , pp. 1169-1178
    • Kong, A.1    Cox, N.J.2
  • 27
    • 0034895430 scopus 로고    scopus 로고
    • Recent advances in hereditary spastic paraplegia
    • Tallaksen CM, Dürr 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    Dürr, A.2    Brice, A.3
  • 28
    • 0041550246 scopus 로고
    • The association of familiar spastic paraplegia and epilepsy in one family
    • Bruyn GW, Mechelse K. The association of familiar spastic paraplegia and epilepsy in one family. Psychiatr Neurol Neurochir 1962;65:280-292.
    • (1962) Psychiatr Neurol Neurochir , vol.65 , pp. 280-292
    • Bruyn, G.W.1    Mechelse, K.2
  • 29
    • 0025885121 scopus 로고
    • Hereditary spastic paraplegia with epileptic myoclonus
    • Sommerfelt K, Kyllerman M, Sanner G. Hereditary spastic paraplegia with epileptic myoclonus. Acta Neu-rol Scand 1991;84:157-160.
    • (1991) Acta Neu-rol Scand , vol.84 , pp. 157-160
    • Sommerfelt, K.1    Kyllerman, M.2    Sanner, G.3
  • 30
    • 0042768145 scopus 로고    scopus 로고
    • Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy
    • Lo Nigro C, Cusano R, Gigli GL, et al. Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. Am J Med Genet A 2003;117:116-121.
    • (2003) Am J Med Genet A , vol.117 , pp. 116-121
    • Lo Nigro, C.1    Cusano, R.2    Gigli, G.L.3
  • 31
    • 0242691095 scopus 로고    scopus 로고
    • Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
    • Simpson MA, Cross H, Proukakis C, et al. Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 2003;73:1147-1156.
    • (2003) Am J Hum Genet , vol.73 , pp. 1147-1156
    • Simpson, M.A.1    Cross, H.2    Proukakis, C.3
  • 32
    • 1042299828 scopus 로고    scopus 로고
    • Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
    • McMonagle P, Byrne P, Hutchinson M. Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Neurology 2004;62:407- 410.
    • (2004) Neurology , vol.62 , pp. 407-410
    • McMonagle, P.1    Byrne, P.2    Hutchinson, M.3
  • 33
    • 2442687877 scopus 로고    scopus 로고
    • A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts
    • Orlacchio A, Gaudiello F, Totaro A, et al. A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology 2004;62:1875- 1878.
    • (2004) Neurology , vol.62 , pp. 1875-1878
    • Orlacchio, A.1    Gaudiello, F.2    Totaro, A.3
  • 34
    • 33646710897 scopus 로고    scopus 로고
    • A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
    • Al-Yahyaee S, Al-Gazali LI, De Jonghe P, et al. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 2006;66:1230-1234.
    • (2006) Neurology , vol.66 , pp. 1230-1234
    • Al-Yahyaee, S.1    Al-Gazali, L.I.2    De Jonghe, P.3
  • 35
    • 0036202996 scopus 로고    scopus 로고
    • Ammon's horn sclerosis: A maldevelopmental disorder associated with temporal lobe epilepsy
    • Blümcke I, Thom M, Wiestler OD. Ammon's horn sclerosis: a maldevelopmental disorder associated with temporal lobe epilepsy. Brain Pathol 2002;12:199-211.
    • (2002) Brain Pathol , vol.12 , pp. 199-211
    • Blümcke, I.1    Thom, M.2    Wiestler, O.D.3
  • 36
    • 10744224527 scopus 로고    scopus 로고
    • PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier
    • Rogaeva E, Bergeron C, Sato C, et al. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. Neurology 2003;61:1005-1007.
    • (2003) Neurology , vol.61 , pp. 1005-1007
    • Rogaeva, E.1    Bergeron, C.2    Sato, C.3
  • 37
    • 27644498533 scopus 로고    scopus 로고
    • Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine
    • Orso G, Martinuzzi A, Rossetto MG, Sartori E, Feany M, Daga A. Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine. J Clin Invest 2005; 115:3026-3034.
    • (2005) J Clin Invest , vol.115 , pp. 3026-3034
    • Orso, G.1    Martinuzzi, A.2    Rossetto, M.G.3    Sartori, E.4    Feany, M.5    Daga, A.6
  • 38
    • 33947713961 scopus 로고    scopus 로고
    • Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing
    • White SR, Evans KJ, Lary J, Cole JL, Lauring B. Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing. J Cell Biol 2007;176:995-1005.
    • (2007) J Cell Biol , vol.176 , pp. 995-1005
    • White, S.R.1    Evans, K.J.2    Lary, J.3    Cole, J.L.4    Lauring, B.5
  • 39
    • 0842285550 scopus 로고    scopus 로고
    • Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes
    • Windpassinger C, Wagner K, Petek E, Fischer R, Auer-Grumbach M. Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. Hum Genet 2003;114:99- 109.
    • (2003) Hum Genet , vol.114 , pp. 99-109
    • Windpassinger, C.1    Wagner, K.2    Petek, E.3    Fischer, R.4    Auer-Grumbach, M.5
  • 40
    • 4644255616 scopus 로고    scopus 로고
    • A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia
    • Warner TT, Patel H, Proukakis C, et al. A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J Neurol 2004;251:1068-1074.
    • (2004) J Neurol , vol.251 , pp. 1068-1074
    • Warner, T.T.1    Patel, H.2    Proukakis, C.3
  • 41
    • 33746094658 scopus 로고    scopus 로고
    • Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
    • Evans K, Keller C, Pavur K, Glasgow K, Conn B, Lauring B. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Proc Natl Acad Sci USA 2006;103:10666-10671.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 10666-10671
    • Evans, K.1    Keller, C.2    Pavur, K.3    Glasgow, K.4    Conn, B.5    Lauring, B.6
  • 42
    • 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
  • 43
    • 0343090417 scopus 로고    scopus 로고
    • Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: A clinical, electrophysio-logical and genetic study
    • Auer-Grumbach M, Löscher WN, Wagner K, et al. Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysio-logical and genetic study. Brain 2000;123:1612-1623.
    • (2000) Brain , vol.123 , pp. 1612-1623
    • Auer-Grumbach, M.1    Löscher, W.N.2    Wagner, K.3
  • 44
    • 4344641102 scopus 로고    scopus 로고
    • The pheno-type of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
    • Irobi J, Van den Bergh P, Merlini L, et al. The pheno-type of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 2004;127:2124-2130.
    • (2004) Brain , vol.127 , pp. 2124-2130
    • Irobi, J.1    Van den Bergh, P.2    Merlini, L.3
  • 45
    • 35648990564 scopus 로고    scopus 로고
    • Rohkamm B, Reilly MM, Lochmüller H, et al. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci Epub 2007 Jul 27.
    • Rohkamm B, Reilly MM, Lochmüller H, et al. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci Epub 2007 Jul 27.


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