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Volumn 99, Issue 1, 2000, Pages 7-13

Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene

Author keywords

Adult; Myelin; Pathology; Pelizaeus Merzbacher disease; Proteolipid protein

Indexed keywords

MYELIN; PROTEOLIPID PROTEIN;

EID: 0033960318     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00007409     Document Type: Article
Times cited : (16)

References (21)
  • 1
    • 0028142316 scopus 로고
    • Genetic homogeneity of Pelizaeus-Merzbacher disease: Tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group
    • Boesflug-Tanguy O, Mimault C, Melki J, Cavagna A, Giraud G, Dinh DP, Dastugue B, Dautigny A (1994) Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Am J Hum Genet 55:461-467
    • (1994) Am J Hum Genet , vol.55 , pp. 461-467
    • Boesflug-Tanguy, O.1    Mimault, C.2    Melki, J.3    Cavagna, A.4    Giraud, G.5    Dinh, D.P.6    Dastugue, B.7    Dautigny, A.8
  • 2
    • 0023036672 scopus 로고
    • Pelizaeus-Merzbacher disease: Clinical and nosological study
    • Boulloche J, Aicardi J (1986) Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1:233-239
    • (1986) J Child Neurol , vol.1 , pp. 233-239
    • Boulloche, J.1    Aicardi, J.2
  • 3
    • 0029155690 scopus 로고
    • Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease
    • Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG (1995) Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol 38:610-617
    • (1995) Ann Neurol , vol.38 , pp. 610-617
    • Carango, P.1    Funanage, V.L.2    Quirós, R.E.3    Debruyn, C.S.4    Marks, H.G.5
  • 4
    • 0342713709 scopus 로고
    • Pelizaeus-Merzbacher disease - Report of a sporadic adult case
    • Fujisawa K, Yamamoto T, Shiraki H, Abe H (1970) Pelizaeus-Merzbacher disease - Report of a sporadic adult case. Adv Neurol Sci 14:367-378
    • (1970) Adv Neurol Sci , vol.14 , pp. 367-378
    • Fujisawa, K.1    Yamamoto, T.2    Shiraki, H.3    Abe, H.4
  • 5
    • 0024419974 scopus 로고
    • Pelizaeus-Merzbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein
    • Gencic S, Abuelo D, Ambler M, Hudson LD (1989) Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 45: 435-442
    • (1989) Am J Hum Genet , vol.45 , pp. 435-442
    • Gencic, S.1    Abuelo, D.2    Ambler, M.3    Hudson, L.D.4
  • 6
    • 0027759985 scopus 로고
    • Genetics of Pelizaeus-Merzbacher disease
    • Hodes ME, Pratt VM, Dlouhy SR (1993) Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 15: 383-394
    • (1993) Dev Neurosci , vol.15 , pp. 383-394
    • Hodes, M.E.1    Pratt, V.M.2    Dlouhy, S.R.3
  • 8
    • 0027394845 scopus 로고
    • A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family
    • Iwaki A, Muramoto T, Iwaki T, Furumi H, Dario-deLeon ML, Tateishi J, Fukumaki Y (1993) A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 2: 19-22
    • (1993) Hum Mol Genet , vol.2 , pp. 19-22
    • Iwaki, A.1    Muramoto, T.2    Iwaki, T.3    Furumi, H.4    Dario-DeLeon, M.L.5    Tateishi, J.6    Fukumaki, Y.7
  • 9
    • 0016415595 scopus 로고
    • An autopsy case of classical Pelizaeus-Merzbacher disease
    • Berl
    • Konishi Y, Kamoshita S (1975) An autopsy case of classical Pelizaeus-Merzbacher disease. Acta Neuropathol (Berl) 31 : 267-270
    • (1975) Acta Neuropathol , vol.31 , pp. 267-270
    • Konishi, Y.1    Kamoshita, S.2
  • 10
    • 0030869978 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq
    • Lazzarini A, Schwarz KO, Jiang S, Stenroos ES, Lehner T, Johnson WG (1997) Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq. Neurology 49: 824-832
    • (1997) Neurology , vol.49 , pp. 824-832
    • Lazzarini, A.1    Schwarz, K.O.2    Jiang, S.3    Stenroos, E.S.4    Lehner, T.5    Johnson, W.G.6
  • 11
    • 0007208587 scopus 로고
    • Diffuse sclerosis with preserved myelin islands
    • Löwenberg K, Hill TS (1933) Diffuse sclerosis with preserved myelin islands. Arch Neurol Psychiatry 29: 1232-1245
    • (1933) Arch Neurol Psychiatry , vol.29 , pp. 1232-1245
    • Löwenberg, K.1    Hill, T.S.2
  • 12
    • 0030773792 scopus 로고    scopus 로고
    • The pathology of oligodendrocyte
    • Ludwin SK (1997) The pathology of oligodendrocyte. J Neuropathol Exp Neurol 56: 111-124
    • (1997) J Neuropathol Exp Neurol , vol.56 , pp. 111-124
    • Ludwin, S.K.1
  • 13
    • 52449138850 scopus 로고
    • Eine eigenartige familiar erkrankungsform (aplasia axialis extracorticalis congenita)
    • Merzbacher L (1910) Eine eigenartige familiar Erkrankungsform (Aplasia axialis extracorticalis congenita). Z Ges Neurol Psychiatr 3: 1-138
    • (1910) Z Ges Neurol Psychiatr , vol.3 , pp. 1-138
    • Merzbacher, L.1
  • 14
    • 0022633840 scopus 로고
    • Pelizaeus-Merzbacher disease in a brother and sister
    • Berl
    • Pamphlett, Silberstein P (1986) Pelizaeus-Merzbacher disease in a brother and sister. Acta Neuropathol (Berl) 69:343-346
    • (1986) Acta Neuropathol , vol.69 , pp. 343-346
    • Pamphlett1    Silberstein, P.2
  • 15
    • 34250558979 scopus 로고
    • Über eine eigenthumliche form spastischer lähmung mit cerebralerscheinungen auf hereditärer grundlage (multiple sklerose)
    • Pelizaeus F (1885) Über eine eigenthumliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage (Multiple Sklerose). Arch Psychiat Nervenkr 16: 689-710
    • (1885) Arch Psychiat Nervenkr , vol.16 , pp. 689-710
    • Pelizaeus, F.1
  • 16
    • 0027246291 scopus 로고
    • An adult case of classical Pelizaeus-Merzbacher disease -Magnetic resonance images and neuropathological findings
    • Tokyo
    • Saito Y, Ando T, Doyu M, Takahashi A, Hashizume Y (1993) An adult case of classical Pelizaeus-Merzbacher disease -Magnetic resonance images and neuropathological findings. Clin Neurol (Tokyo) 33: 187-193
    • (1993) Clin Neurol , vol.33 , pp. 187-193
    • Saito, Y.1    Ando, T.2    Doyu, M.3    Takahashi, A.4    Hashizume, Y.5
  • 18
    • 0001473673 scopus 로고
    • Pelizaeus-Merzbacher disease
    • Seitelberger F (1970) Pelizaeus-Merzbacher disease. Handb Clin Neurol 10: 150-202
    • (1970) Handb Clin Neurol , vol.10 , pp. 150-202
    • Seitelberger, F.1
  • 19
    • 0029145584 scopus 로고
    • Neuropathology and genetics of Pelizaeus-Merzbacher disease
    • Seiterberger F (1995) Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 5: 267-273
    • (1995) Brain Pathol , vol.5 , pp. 267-273
    • Seiterberger, F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.