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Volumn 68, Issue 16, 2007, Pages 1305-1307

Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BETA1A INTERFERON; CORTICOSTEROID; GADOLINIUM; METHYLPREDNISOLONE; OLIGOCLONAL BAND; PROTEOLIPID PROTEIN; STEROID; SYNAPSIN I; TRYPTOPHAN;

EID: 34247259115     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000259522.49388.53     Document Type: Article
Times cited : (31)

References (23)
  • 1
    • 0033678145 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease
    • Cailloux F, Gauthier-Barichard F, Mimault C, et al. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet 2000;8:837-845.
    • (2000) Eur J Hum Genet , vol.8 , pp. 837-845
    • Cailloux, F.1    Gauthier-Barichard, F.2    Mimault, C.3
  • 3
    • 15444363703 scopus 로고    scopus 로고
    • PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
    • Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005;6:1-16.
    • (2005) Neurogenetics , vol.6 , pp. 1-16
    • Inoue, K.1
  • 4
    • 0028239867 scopus 로고
    • X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    • Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-262.
    • (1994) Nat Genet , vol.6 , pp. 257-262
    • Saugier-Veber, P.1    Munnich, A.2    Bonneau, D.3
  • 5
    • 0031042927 scopus 로고    scopus 로고
    • Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease
    • Hodes ME, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. Am J Med Genet 1997;69:121-125.
    • (1997) Am J Med Genet , vol.69 , pp. 121-125
    • Hodes, M.E.1    Blank, C.A.2    Pratt, V.M.3    Morales, J.4    Napier, J.5    Dlouhy, S.R.6
  • 6
    • 0030924858 scopus 로고    scopus 로고
    • Multiple sclerosis in childhood: Clinical features of 149 cases
    • Ghezzi A, Deplano V, Faroni J, et al. Multiple sclerosis in childhood: clinical features of 149 cases. Mult Scler 1997;3:43-46.
    • (1997) Mult Scler , vol.3 , pp. 43-46
    • Ghezzi, A.1    Deplano, V.2    Faroni, J.3
  • 7
    • 0027957780 scopus 로고
    • Increased frequency of interleukin 2-responsive T cells specific for myelin basic protein and proteolipid protein in peripheral blood and cerebrospinal fluid of patients with multiple sclerosis
    • Zhang J, Markovic-Plese S, Lacet B, Raus J, Weiner HL, Hafler DA. Increased frequency of interleukin 2-responsive T cells specific for myelin basic protein and proteolipid protein in peripheral blood and cerebrospinal fluid of patients with multiple sclerosis. J Exp Med 1994;179:973-984.
    • (1994) J Exp Med , vol.179 , pp. 973-984
    • Zhang, J.1    Markovic-Plese, S.2    Lacet, B.3    Raus, J.4    Weiner, H.L.5    Hafler, D.A.6
  • 8
    • 0030899404 scopus 로고    scopus 로고
    • Diversity and plasticity of self recognition during the development of multiple sclerosis
    • Tuohy VK, Yu M, Weinstock-Guttman B, Kinkel RP. Diversity and plasticity of self recognition during the development of multiple sclerosis. J Clin Invest 1997;99:1682-1690.
    • (1997) J Clin Invest , vol.99 , pp. 1682-1690
    • Tuohy, V.K.1    Yu, M.2    Weinstock-Guttman, B.3    Kinkel, R.P.4
  • 9
    • 17744398193 scopus 로고    scopus 로고
    • A meta-analysis of genomic screens in multiple sclerosis. The Transatlantic Multiple Sclerosis Genetics Cooperative. Mult Scler 2001;7:3-11.
    • A meta-analysis of genomic screens in multiple sclerosis. The Transatlantic Multiple Sclerosis Genetics Cooperative. Mult Scler 2001;7:3-11.
  • 10
    • 0031473675 scopus 로고    scopus 로고
    • Role of myelin basic protein and proteolipid protein genes in multiple sclerosis: Single strand conformation polymorphism analysis of the human sequences
    • Price SE, Sharpe G, Boots A, et al. Role of myelin basic protein and proteolipid protein genes in multiple sclerosis: single strand conformation polymorphism analysis of the human sequences. Neuropathol Appl Neurobiol 1997;23:457-467.
    • (1997) Neuropathol Appl Neurobiol , vol.23 , pp. 457-467
    • Price, S.E.1    Sharpe, G.2    Boots, A.3
  • 11
    • 24644473534 scopus 로고    scopus 로고
    • Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation
    • Warshawsky I, Rudick RA, Staugaitis SM, Natowicz MR. Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation. Ann Neurol 2005;58:470-473.
    • (2005) Ann Neurol , vol.58 , pp. 470-473
    • Warshawsky, I.1    Rudick, R.A.2    Staugaitis, S.M.3    Natowicz, M.R.4
  • 12
    • 0020686503 scopus 로고
    • New diagnostic criteria for multiple sclerosis: Guidelines for research protocols
    • Poser CM, Paty DW, Scheinberg L, et al. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983;13:227-231.
    • (1983) Ann Neurol , vol.13 , pp. 227-231
    • Poser, C.M.1    Paty, D.W.2    Scheinberg, L.3
  • 13
    • 0032965277 scopus 로고    scopus 로고
    • Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members
    • Sivakumar K, Sambuughin N, Selenge B, et al. Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members. Ann Neurol 1999;45:680-683.
    • (1999) Ann Neurol , vol.45 , pp. 680-683
    • Sivakumar, K.1    Sambuughin, N.2    Selenge, B.3
  • 14
    • 4644354008 scopus 로고    scopus 로고
    • A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene
    • Lee ES, Moon HK, Park YH, Garbern J, Hobson GM. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. J Neurol Sci 2004;224:83-87.
    • (2004) J Neurol Sci , vol.224 , pp. 83-87
    • Lee, E.S.1    Moon, H.K.2    Park, Y.H.3    Garbern, J.4    Hobson, G.M.5
  • 15
    • 0037320326 scopus 로고    scopus 로고
    • Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation
    • Battini R, Bianchi MC, Boespflug-Tanguy O, et al. Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation. Arch Neurol 2003;60:268-272.
    • (2003) Arch Neurol , vol.60 , pp. 268-272
    • Battini, R.1    Bianchi, M.C.2    Boespflug-Tanguy, O.3
  • 16
    • 0036006720 scopus 로고    scopus 로고
    • Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: Myelination and development
    • Sporkel O, Uschkureit T, Bussow H, Stoffel W. Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: myelination and development. Glia 2002;37:19-30.
    • (2002) Glia , vol.37 , pp. 19-30
    • Sporkel, O.1    Uschkureit, T.2    Bussow, H.3    Stoffel, W.4
  • 17
    • 0028794116 scopus 로고
    • Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males
    • Osaka H, Kawanishi C, Inoue K, et al. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem Biophys Res Commun 1995;215:835-841.
    • (1995) Biochem Biophys Res Commun , vol.215 , pp. 835-841
    • Osaka, H.1    Kawanishi, C.2    Inoue, K.3
  • 18
    • 0030727602 scopus 로고    scopus 로고
    • A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria
    • Naidu S, Dlouhy SR, Geraghty MT, Hodes ME. A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria. J Inherit Metab Dis 1997;20:811-816.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 811-816
    • Naidu, S.1    Dlouhy, S.R.2    Geraghty, M.T.3    Hodes, M.E.4
  • 19
    • 0033556316 scopus 로고    scopus 로고
    • Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)
    • Hodes ME, Zimmerman AW, Aydanian A, et al. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2). Am J Med Genet 1999;82:132-139.
    • (1999) Am J Med Genet , vol.82 , pp. 132-139
    • Hodes, M.E.1    Zimmerman, A.W.2    Aydanian, A.3
  • 20
    • 0029001756 scopus 로고
    • X-linked pure familial spastic paraparesis: Characterization of a large kindred with magnetic resonance imaging studies
    • Cambi F, Tartaglino L, Lublin F, McCarren D. X-linked pure familial spastic paraparesis: characterization of a large kindred with magnetic resonance imaging studies. Arch Neurol 1995;52:665-669.
    • (1995) Arch Neurol , vol.52 , pp. 665-669
    • Cambi, F.1    Tartaglino, L.2    Lublin, F.3    McCarren, D.4
  • 21
    • 0037369640 scopus 로고    scopus 로고
    • Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy
    • Shy ME, Hobson G, Jain M, et al. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol 2003;53:354-365.
    • (2003) Ann Neurol , vol.53 , pp. 354-365
    • Shy, M.E.1    Hobson, G.2    Jain, M.3
  • 22
    • 33645239497 scopus 로고    scopus 로고
    • PLP1 alternative splicing in differentiating oligodendrocytes: Characterization of an exonic splicing enhancer
    • Wang E, Huang Z, Hobson GM, et al. PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer. J Cell Biochem 2006;97:999-1016.
    • (2006) J Cell Biochem , vol.97 , pp. 999-1016
    • Wang, E.1    Huang, Z.2    Hobson, G.M.3
  • 23
    • 33748138567 scopus 로고    scopus 로고
    • Immune cells contribute to myelin degeneration and axonopathic changes in mice overexpressing proteolipid protein in oligodendrocytes
    • Ip CW, Kroner A, Bendszus M, et al. Immune cells contribute to myelin degeneration and axonopathic changes in mice overexpressing proteolipid protein in oligodendrocytes. J Neurosci 2006;26:8206-8216.
    • (2006) J Neurosci , vol.26 , pp. 8206-8216
    • Ip, C.W.1    Kroner, A.2    Bendszus, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.