메뉴 건너뛰기




Volumn 32, Issue 1, 2012, Pages 62-67

Pelizaeus-merzbacher disease, pelizaeus-merzbacher-like disease 1, and related hypomyelinating disorders

Author keywords

Pelizaeus Merzbacher disease; Pelizaeus Merzbacher like disease; spastic paraplegia 2; spastic paraplegia 44

Indexed keywords

BACLOFEN; BOTULINUM TOXIN; CARBAMAZEPINE; DIAZEPAM; GAP JUNCTION PROTEIN; PROTEOLIPID PROTEIN; TIZANIDINE;

EID: 84858146268     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0032-1306388     Document Type: Article
Times cited : (103)

References (54)
  • 1
    • 0033365230 scopus 로고    scopus 로고
    • Proteolipoprotein gene analysis in 82 patients with sporadic pelizaeus- merzbacher disease: Duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not
    • DOI 10.1086/302483
    • Mimault C, Giraud G, Courtois V., et al. The Clinical European Network on Brain Dysmyelinating Disease. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. Am J Hum Genet: 1999; 65 2 360 369 (Pubitemid 30462994)
    • (1999) American Journal of Human Genetics , vol.65 , Issue.2 , pp. 360-369
    • Mimault, C.1    Giraud, G.2    Courtois, V.3    Cailloux, F.4    Boire, J.Y.5    Dastugue, B.6    Boespflug-Tanguy, O.7
  • 3
    • 33745619547 scopus 로고    scopus 로고
    • Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
    • DOI 10.1093/hmg/ddl150
    • Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet: 2006; 15 14 2250 2265 (Pubitemid 43985516)
    • (2006) Human Molecular Genetics , vol.15 , Issue.14 , pp. 2250-2265
    • Lee, J.A.1    Inoue, K.2    Cheung, S.W.3    Shaw, C.A.4    Stankiewicz, P.5    Lupski, J.R.6
  • 5
    • 77649273260 scopus 로고    scopus 로고
    • Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications
    • Shimojima K, Inoue T, Hoshino A., et al. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev: 2010; 32 3 171 179
    • (2010) Brain Dev , vol.32 , Issue.3 , pp. 171-179
    • Shimojima, K.1    Inoue, T.2    Hoshino, A.3
  • 10
    • 49149110848 scopus 로고    scopus 로고
    • PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations
    • Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrire C. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations. Hum Mutat: 2008; 29 8 1028 1036
    • (2008) Hum Mutat , vol.29 , Issue.8 , pp. 1028-1036
    • Bonnet-Dupeyron, M.N.1    Combes, P.2    Santander, P.3    Cailloux, F.4    Boespflug-Tanguy, O.5    Vaurs-Barrire, C.6
  • 11
    • 79959230718 scopus 로고    scopus 로고
    • Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: Identification and functional characterization of 11 novel PLP1 mutations
    • Grossi S, Regis S, Biancheri R., et al. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet J Rare Dis: 2011; 6 40
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 40
    • Grossi, S.1    Regis, S.2    Biancheri, R.3
  • 14
    • 84976320242 scopus 로고
    • Hobson G, PLP1-related disorders
    • Pagon R. Bird T. Dolan C. Stephens K., eds. Seattle University of Washington Accessed September 29, 2011
    • Garbern J, Krajewski K. Hobson G, PLP1-related disorders. In: Pagon R, Bird T, Dolan C, Stephens K., eds. GeneReviews. Seattle University of Washington: 1993; http://www.ncbi.nlm.nih.gov/books/NBK1182/. Accessed September 29, 2011
    • (1993) GeneReviews
    • Garbern, J.1    Krajewski, K.2
  • 16
    • 0037257937 scopus 로고    scopus 로고
    • Pelizaeus Merzbacherova choroba (PMD) - Detekce nejcastejsí mutace proteolipid protein genu u ceských pacientu a rodin s klasickou formou PMD
    • Seeman P, Krsck P, Namestkova K., et al. Pelizaeus-Merzbacher's disease (PMD) - Detection of the most frequent mutation of the proteolipid protein gene in Czech patients and families with the classical form of PMD. Ceska Slovenska Neurol Neurochir: 2003; 66 95 104 (Pubitemid 36417158)
    • (2003) Ceska a Slovenska Neurologie a Neurochirurgie , vol.66 , Issue.2 , pp. 95-104
    • Seeman, P.1    Krsek, P.2    Namestkova, K.3    Malikova, M.4    Belsan, T.5    Proskova, M.6
  • 17
    • 84858753081 scopus 로고    scopus 로고
    • Gap junctions in inherited human disorders of the central nervous system
    • Abrams CK, Scherer SS. Gap junctions in inherited human disorders of the central nervous system. Biochim Biophys Acta: 2011
    • (2011) Biochim Biophys Acta
    • Abrams, C.K.1    Scherer, S.S.2
  • 22
    • 41649092989 scopus 로고    scopus 로고
    • GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
    • Henneke M, Combes P, Diekmann S., et al. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology: 2008; 70 10 748 754
    • (2008) Neurology , vol.70 , Issue.10 , pp. 748-754
    • Henneke, M.1    Combes, P.2    Diekmann, S.3
  • 23
    • 77649185961 scopus 로고    scopus 로고
    • Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease
    • Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. Brain Dev: 2010; 32 3 236 243
    • (2010) Brain Dev , vol.32 , Issue.3 , pp. 236-243
    • Wang, J.1    Wang, H.2    Wang, Y.3    Chen, T.4    Wu, X.5    Jiang, Y.6
  • 24
    • 84856219976 scopus 로고    scopus 로고
    • Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease
    • Combes P, Kammoun N, Monnier A., et al. Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease. Ann Neurol: 2010; 71 1 146 148
    • (2010) Ann Neurol , vol.71 , Issue.1 , pp. 146-148
    • Combes, P.1    Kammoun, N.2    Monnier, A.3
  • 25
    • 60149110304 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
    • Orthmann-Murphy JL, Salsano E, Abrams CK., et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain: 2009; 132 Pt 2 426 438
    • (2009) Brain , vol.132 , Issue.PART 2 , pp. 426-438
    • Orthmann-Murphy, J.L.1    Salsano, E.2    Abrams, C.K.3
  • 26
    • 77953120512 scopus 로고    scopus 로고
    • GJC2 missense mutations cause human lymphedema
    • Ferrell RE, Baty CJ, Kimak MA., et al. GJC2 missense mutations cause human lymphedema. Am J Hum Genet: 2010; 86 6 943 948
    • (2010) Am J Hum Genet , vol.86 , Issue.6 , pp. 943-948
    • Ferrell, R.E.1    Baty, C.J.2    Kimak, M.A.3
  • 27
    • 0023036672 scopus 로고
    • Pelizaeus-Merzbacher disease: Clinical and nosological study
    • Boulloche J, Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol: 1986; 1 3 233 239 (Pubitemid 17171109)
    • (1986) Journal of Child Neurology , vol.1 , Issue.3 , pp. 233-239
    • Boulloche, J.1    Aicardi, J.2
  • 29
    • 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. Clinical European Network on Brain Dysmyelinating Disease. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Eur J Hum Genet: 2000; 8 11 837 845
    • (2000) Eur J Hum Genet , vol.8 , Issue.11 , pp. 837-845
    • Cailloux, F.1    Gauthier-Barichard, F.2    Mimault, C.3
  • 31
    • 0031801082 scopus 로고    scopus 로고
    • Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
    • Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology: 1998; 50 6 1749 1754 (Pubitemid 28283246)
    • (1998) Neurology , vol.50 , Issue.6 , pp. 1749-1754
    • Sistermans, E.A.1    De Coo, R.F.M.2    De Wijs, I.J.3    Van Oost, B.A.4
  • 32
    • 65549151341 scopus 로고    scopus 로고
    • Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease
    • Fattal-Valevski A, DiMaio MS, Hisama FM., et al. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease. J Child Neurol: 2009; 24 5 618 624
    • (2009) J Child Neurol , vol.24 , Issue.5 , pp. 618-624
    • Fattal-Valevski, A.1    Dimaio, M.S.2    Hisama, F.M.3
  • 33
    • 33746890542 scopus 로고    scopus 로고
    • Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease
    • DOI 10.1097/01.gim.0000223551.95862.c3, PII 0012581720060600000006
    • Hurst S, Garbern J, Trepanier A, Gow A. Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease. Genet Med: 2006; 8 6 371 378 (Pubitemid 44297308)
    • (2006) Genetics in Medicine , vol.8 , Issue.6 , pp. 371-378
    • Hurst, S.1    Garbern, J.2    Trepanier, A.3    Gow, A.4
  • 34
    • 84860553716 scopus 로고    scopus 로고
    • Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22
    • in press
    • Carvalho C, Bartnik M, Pehlivan D., et al. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet, in press
    • Clin Genet
    • Carvalho, C.1    Bartnik, M.2    Pehlivan, D.3
  • 35
    • 0031953422 scopus 로고    scopus 로고
    • An MRI and MRS study of Pelizaeus-Merzbacher disease
    • DOI 10.1016/S0887-8994(97)00212-9, PII S0887899497002129
    • Nezu A, Kimura S, Takeshita S, Osaka H, Kimura K, Inoue K. An MRI and MRS study of Pelizaeus-Merzbacher disease. Pediatr Neurol: 1998; 18 4 334 337 (Pubitemid 28191528)
    • (1998) Pediatric Neurology , vol.18 , Issue.4 , pp. 334-337
    • Nezu, A.1    Kimura, S.2    Takeshita, S.3    Osaka, H.4    Kimura, K.5    Inoue, K.6
  • 37
    • 77957688535 scopus 로고    scopus 로고
    • Magnetic resonance imaging pattern recognition in hypomyelinating disorders
    • Steenweg ME, Vanderver A, Blaser S., et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain: 2010; 133 10 2971 2982
    • (2010) Brain , vol.133 , Issue.10 , pp. 2971-2982
    • Steenweg, M.E.1    Vanderver, A.2    Blaser, S.3
  • 38
    • 19444363984 scopus 로고    scopus 로고
    • Magnetic resonance techniques in the assessment of myelin and myelination
    • DOI 10.1007/s10545-005-5952-z
    • Barkovich AJ. Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis: 2005; 28 3 311 343 (Pubitemid 40723867)
    • (2005) Journal of Inherited Metabolic Disease , vol.28 , Issue.3 , pp. 311-343
    • Barkovich, A.J.1
  • 41
    • 0036790790 scopus 로고    scopus 로고
    • A PLP splicing abnormality is associated with an unusual presentation of PMD
    • Hobson GM, Huang Z, Sperle K, Stabley DL, Marks HG, Cambi F. A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol: 2002; 52 4 477 488
    • (2002) Ann Neurol , vol.52 , Issue.4 , pp. 477-488
    • Hobson, G.M.1    Huang, Z.2    Sperle, K.3    Stabley, D.L.4    Marks, H.G.5    Cambi, F.6
  • 42
    • 24644498062 scopus 로고    scopus 로고
    • Quantitative proton MRS of Pelizaeus-Merzbacher disease: Evidence of dys- and hypomyelination
    • DOI 10.1212/01.wnl.0000174642.32187.20
    • Hanefeld FA, Brockmann K, Pouwels PJ, Wilken B, Frahm J, Dechent P. Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Neurology: 2005; 65 5 701 706 (Pubitemid 41285848)
    • (2005) Neurology , vol.65 , Issue.5 , pp. 701-706
    • Hanefeld, F.A.1    Brockmann, K.2    Pouwels, P.J.W.3    Wilken, B.4    Frahm, J.5    Dechent, P.6
  • 43
    • 77953193400 scopus 로고    scopus 로고
    • Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease
    • Henneke M, Gegner S, Hahn A., et al. Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. Neurology: 2010; 74 22 1785 1789
    • (2010) Neurology , vol.74 , Issue.22 , pp. 1785-1789
    • Henneke, M.1    Gegner, S.2    Hahn, A.3
  • 44
    • 30944468118 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies
    • 2033
    • Verlinsky Y, Rechitsky S, Laziuk K, Librach C, Genovese R, Kuliev A. Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies. Reprod Biomed Online: 2006; 12 1 83 88 (Pubitemid 43109362)
    • (2006) Reproductive BioMedicine Online , vol.12 , Issue.1 , pp. 83-88
    • Verlinsky, Y.1    Rechitsky, S.2    Laziuk, K.3    Librach, C.4    Genovese, R.5    Kuliev, A.6
  • 45
    • 34447289665 scopus 로고    scopus 로고
    • Compound heterozygosity for dominant and recessive GJB2 mutations: Effect on phenotype and review of the literature
    • DOI 10.1002/ajmg.a.31701
    • Welch KO, Marin RS, Pandya A, Arnos KS. Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature. Am J Med Genet A: 2007; 143A 14 1567 1573 (Pubitemid 47047780)
    • (2007) American Journal of Medical Genetics, Part A , vol.143 , Issue.14 , pp. 1567-1573
    • Welch, K.O.1    Marin, R.S.2    Pandya, A.3    Arnos, K.S.4
  • 46
    • 78649766918 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation
    • Feinstein M, Markus B, Noyman I., et al. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am J Hum Genet: 2010; 87 6 820 828
    • (2010) Am J Hum Genet , vol.87 , Issue.6 , pp. 820-828
    • Feinstein, M.1    Markus, B.2    Noyman, I.3
  • 47
    • 46149097136 scopus 로고    scopus 로고
    • Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
    • Magen D, Georgopoulos C, Bross P., et al. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet: 2008; 83 1 30 42
    • (2008) Am J Hum Genet , vol.83 , Issue.1 , pp. 30-42
    • Magen, D.1    Georgopoulos, C.2    Bross, P.3
  • 48
    • 85107133063 scopus 로고
    • Hypomyelination and congenital cataract
    • Pagon R. Bird T. Dolan C. Stephens K., eds. Seattle University of Washington Accessed September 29, 2011
    • Biancheri R, Zara F, Bruno C., et al. Hypomyelination and congenital cataract. In: Pagon R, Bird T, Dolan C, Stephens K., eds. GeneReviews. Seattle University of Washington: 1993; http://www.ncbi.nlm.nih.gov/books/NBK2587/. Accessed September 29, 2011
    • (1993) GeneReviews
    • Biancheri, R.1    Zara, F.2    Bruno, C.3
  • 49
    • 84858745344 scopus 로고
    • Refetoff S, MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency
    • Pagon R. Bird T. Dolan C. Stephens K., eds. Seattle University of Washington Accessed September 29, 2011
    • Dempsey MA, Dumitrescu AM. Refetoff S, MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency. In: Pagon R, Bird T, Dolan C, Stephens K., eds. GeneReviews. Seattle University of Washington: 1993; http://www.ncbi.nlm. nih.gov/books/NBK26373/. Accessed September 29, 2011
    • (1993) GeneReviews
    • Dempsey, M.A.1    Dumitrescu, A.M.2
  • 51
    • 84858753079 scopus 로고
    • Free sialic acid storage disorders
    • Pagon R. Bird T. Dolan C. Stephens K., eds. Seattle University of Washington Accessed September 29, 2011
    • Adams D, Gahl WA. Free sialic acid storage disorders. In: Pagon R, Bird T, Dolan C, Stephens K., eds. GeneReviews. Seattle University of Washington: 1993; http://www.ncbi.nlm.nih.gov/books/NBK1470/. Accessed September 29, 2011
    • (1993) GeneReviews
    • Adams, D.1    Gahl, W.A.2
  • 53
    • 80054690493 scopus 로고
    • L1 Syndrome
    • Pagon R. Bird T. Dolan C. Stephens K., eds. Seattle University of Washington Accessed September 29, 2011
    • Schrander-Stumpel C, Vos YJ. L1 Syndrome. In: Pagon R, Bird T, Dolan C, Stephens K., eds. GeneReviews. Seattle University of Washington: 1993; http://www.ncbi.nlm.nih.gov/books/NBK1484/. Accessed September 29, 2011
    • (1993) GeneReviews
    • Schrander-Stumpel, C.1    Vos, Y.J.2
  • 54
    • 66949163191 scopus 로고
    • Hereditary spastic paraplegia overview
    • Pagon R. Bird T. Dolan C. Stephens K., eds. Seattle University of Washington Accessed September 29, 2011
    • Fink JK. Hereditary spastic paraplegia overview. In: Pagon R, Bird T, Dolan C, Stephens K., eds. GeneReviews. Seattle University of Washington: 1993; http://www.ncbi.nlm.nih.gov/books/NBK1509/. Accessed September 29, 2011
    • (1993) GeneReviews
    • Fink, J.K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.