Genetics of pelizaeus-merzbacher disease

Developmental Neuroscience

Volumn 15, Issue 6, 1993, Pages 383-394

  Hodes, M E ^a   Pratt, Victoria M ^a   Dlouhy, Stephen R ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Central nervous system; Myelin; Nystagmus; Pelizaeus Merzbacher disease; Proteolipid protein gene

Indexed keywords

MYELIN; PROTEOLIPID PROTEIN;

CENTRAL NERVOUS SYSTEM; CHROMOSOME XQ; CLINICAL FEATURE; DISEASE CLASSIFICATION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETICS; HUMAN; INHERITANCE; MYELIN DEFICIENCY; NYSTAGMUS; PARAPLEGIA; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REVIEW;

AMINO ACID SEQUENCE; BASE SEQUENCE; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; HUMAN; MOLECULAR SEQUENCE DATA; MYELIN PROTEINS; MYELIN PROTEOLIPID PROTEIN; SUPPORT, NON-U.S. GOV'T;

EID: 0027759985     PISSN: 03785866     EISSN: 14219859     Source Type: Journal    
DOI: 10.1159/000111361     Document Type: Article

References (78)

1. Merzbacher L: Eine eigenartige familiӓr-hereditӓre Erkrankungsform (Aplasia axialis extracorticalis congenita). Z Gesamte Neurol Psychiair 1910:3:1-138.
2. Pelizaeus F: Üher eine eigenthümliche Form spastischer Lӓhmung mil Cerebralerscheinun-gen auf heredilӓrer Grundlage (multiple Sklero.se). Arch Psychiair Nervenkr 1885:16: 698-710.
3. Seitelberger F: Pelizaeus-Merzbacher disease: in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology: Leucodyslrophies and Polydyslrophies. Amsterdam. North-Holland. 1970, vol 42, pp 150-201.
4. Boulloche J. Aicardi J: Pelizaeus-Merzbacher disease: Clinical and nosological study. J Child Neurol 1986:1:233-239.
5. Gencic S. Abuelo D. Ambler M. Hudson LD: Pelizaeus-Merzbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteo-lipid protein. Am J Hum Genet 1989;45: 435-442.
6. McKusick VA: Mendelian Inheritance in Man, ed 10. Baltimore. Johns Hopkins University Press, 1992.
7. Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O: X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994:6:257-262.
8. Slithers GK. Davies KE: Phenotypic heterogeneity and the single gene (editorial). Am J Hum Genet 1992:50:887-891.
9. lkenaka K, Kagawa T, Mikoshiba K: Selective expression of DM-20. an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and nonglial cells J Neurochem 1992;58:2248-2253.
10. Berndt J A, Kim JG, Hudson LD: Identification of cis-regulatory elements in the myelin proteolipid protein (PLP) gene. J Biol Chen 1992:267:14730-14737.
11. Mikoshiba K, Okano H, Tamura T, Ikenaka K: Structure and function of myelin protein genes. Annu Rev Neurosci 1991:14:201-217.
12. Janz R, Stoffel W: Characterization of a brain-specific Spl-like activity interacting with an unusual binding site within the myelin prolco-lipid protein promoter. Biol Client Hoppe Seyler 1993:374:507-517.
13. Kim JG, Hudson LD: Novel member of the zinc linger superfamily: A C2-HC linger that recognizes a glia-specilic gene. Mol Cell Biol 1992;12:5632-5639.
14. Nave KA, Lai C, Bloom EF, Milner RJ: Splice site selection in the protcolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci USA 1987:84: 5665-5669.
15. Lepage P, Helynck G, Chu JY, Luu B, Sorokine O, Trifilieff E, van Dorsselaer A: Purification and characterization of minor proteolipids: Use of fast atom bombardment — mass spectrometry for peptide sequencing. Biochimie 1986:68:669-686.
16. Schindler P, Luu B, Sorokine O, Trifilieff E, Van Dorsselaer A: Developmental study of protcolipids in bovine brain: A novel prote-olipid and DM-20 appear before proteolipid protein (PLP) during myclination. J Neurochem 1990:55:2079-2085.
17. Morell P: Myelin. New York, Plenum Press, 1984.
18. Vermeesch MK, Knapp PE, Skoff RP, Studzinski DM, Benjamins JA: Death of individual oligodendrocytes in jimpy brain precedes expression of proteolipid protein. Dev Neurosci 1990;12:303-315.
19. Schneider A, Montague P, Griffiths I, Fanarraga M, Kennedy P, Brophy P, Nave KA: Uncoupling of hypomyelination and glial cell death by a mutation in the protcolipid protein gene. Nature 1992:358:758-761.
20. Gow A, Friedrich VL, Lazzarini RA: Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein. J Neurosci Res 1994;37:563-573.
21. Gow A, Friedrich VL, Lazzarini RA: Many naturally occurring mutations of myelin PLP impair its intracellular transport, J Neurosci Res 1994:37:574-583.
22. Diaz RS. Monreal J. Lucas M: Calcium movements mediated by proteolipid protein and nucleotides in liposomes prepared with the endogenous lipids from brain white matter. J Neurochem 1990:55:1304-1309.
23. Matthieu JM: An introduction to the molecular basis of inherited myelin diseases. J Inherited Metab Dis 1993:16:724-732.
24. Lemke G: Unwrapping the genes of myelin. Neuron 1988;1:535-543.
25. Lemke G: The molecular genetics of myelination: An update. Glia 1993:7:263-271.
26. Lubetzki C, Zalc B: Myéline et oligodendrocytes: Aspects récents. Rev Neurol 1990:11: 645-654.
27. Moore KL: The Developing Human: Clinically Oriented Embryology. Philadelphia, Saunders. 1982.
28. Diehl JH, Schaich M, Budzinski RM, Stoffel W: Individual exons encode the integral membrane domains of human myelin protcolipid protein. Proc Natl Acad Sci USA 1986;83: 9807-9811.
29. Pratt VM, Trofatter JA, Larsen MB, Hodes ME, Dlouhy SR: A new variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease. Am J Med Genet 1992:43:642-646.
30. Popot JL, Pham Dinh D, Dautigny A: Major myelin proteolipid: The 4-α-helix topology. JMembr Biol 1991:120:233-246.
31. Stoffel W, Hillen H, Giersiefen H: Structure and molecular arrangement of proteolipid protein of central nervous system myelin. Proc Natl Acad Sci USA 1984:81:5012-5016.
32. Laursen RA, Samiullah M, Lees MB: The structure of bovine brain myelin proteolipid and its organization in myelin. Proc Nat Acad Sci USA 1984:81:2912-2916.
33. Hudson LD, Puckett C, Berndt J, Chan J, Gencic S: Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 1989:86: 8128-8131.
34. Williams KA, Deber CM: The structure and function of central nervous system myelin. Crit Rev Clin Lab Sci 1993:30:29-64.
35. Zeman W, DeMyer W, Falls JS: Pelizaeus-Merzbacher disease: A study in nosology. J Neuropathol Exp Neurol 1964:23:334-354.
36. Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME: Pelizaeus-Merzbacher disease: Tight linkage to proleolipid protein gene exon variant. Proc Natl Acad Sci USA 1989:86:9427-9430.
37. Strautnieks S, Rutland P, Winter RM, Baraitser M, Malcolm S: Pelizaeus-Merzbacher disease: Detection of mutations Thrl8l → Pro and Leu 223 → Pro in the protcolipid protein gene, and prenatal diagnosis. Am J Hum Genet 1992:51: 871-878.
38. Doll R, Natowicz MR, Schiffmann R, Smith FI: Molecular diagnostics for myelin proteo-lipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992: 51:161-169.
39. Pratt VM, Kiefer JR, Lӓhdetie J, Schleutker J, Hodes ME, Dlouhy SR: Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred. Am J Hum Genet 1993: 52:1053-1056.
40. Ellis D, Malcolm S: Proteolipid protein gone dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994;6:333-334.
41. Strautnieks S, Malcolm S: A G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease. Hum Mol Genet 1993:2:2191-2192.
42. Hayashi K: PCR-SSCP: A method for detection of mutations. Genet Anal Tech Appl 1992;9:73-79.
43. Hudson LD, Puckett C, Berndt J, Chan J, Gencic S: Mutation of the protcolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Nall Acad Sci USA 1989:86: 8128-8131.
44. Tosic M, Dolivo M, Amiguet P, Domanska-Junik K, Matthieu JM: Paralytic tremor (pt) rabbit: A sex-linked mutation affecting proteolipid protein-gene expression. Brain Res 1993:625:307-312.
45. Kocppen AH, Csiza CK, Willey AM, Ronne M, Barron KD, Dearborn RE, Hurwitz CG: Myelin deficiency in female rats due to a mutation in the PLP gene. J Neurol Sci 1992:107: 78-86.
46. Koeppen AH: Pelizaeus-Merzbacher disease: X-linked proteolipid protein deficiency in the human central nervous system: in Martenson RE(ed): Myelin: Biology and Chemistry. Boca Raton. CRC Press. 1992, pp 703-721.
47. Seitelberger F: Pelizaeus-Merzbacher disease. 1: Classical type. II: Congenital type (Scitel-berger); in Vinken PJ (ed): Handbook of Clinical Neurology. Amsterdam, Elsevier. 1981.vol 81. pp 502-504.
48. Kendall BE: Inborn errors and demyclination: MRI and the diagnosis of white matter disease. J Inherited Metab Dis 1993:16:771-786.
49. Markand ON, Gavg BP, DeMyer WE, Warren C, Worth RM: Brain stent auditory, visual and somatosensory evoked potentials in leukodystrophies. Electroencephalogr Clin Neurophysiol 1982:54:39-48.
50. Poduslo SE, Decker P, Astle H, Kurth J, LaBate M: Identification of a new polymorphism in the human protcolipid protein gene, Neurochem Int 1993:23:413-417.
51. Pratt VM, Dlouhy SR, Hodes ME: Possible cryptic splice site found in the PLP gene in a patient with Pelizaeus-Merzbacher disease. Am J Hum Genet 1991;49 (suppl):4l6.
52. Trofalter JA, Pratt VM, Dlouhy SR, Hodes ME: AhaII polymorphism in human X-linked proteolipid protein gene (PLP). Nucleic Acids Res 1991:19:6057.
53. Kurosawa K, Iwaki A, Miyake S, lmaizumi K, Kuroki Y, Fukumaki Y: A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease. Hum Mol Genet 1993:2:2187-2189.
54. Pham-Dinh D, Boespfiug-Tanguy O, Mimault C, Cavagna A, Giraud G, Leborre G, Demarec B, Dautigny A: Pelizaeus-Merzbacher disease: A frameshift deletion/insertion event in the myelin proteolipid gene. Hum Mol Genet 1993;2:465-467.
55. Raskind WH, Williams CA, Hudson LD, Bird TD: Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 1991:49:1355-1360.
56. Bridge PJ, Wilkins PJ: The role of protcolipid protein gene mutations in Pelizaeus-Merzbacher disease (abstract). Am J Hum Genet 1992:51:209.
57. Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofalter JA, Hodes ME: An inframe deletion in the proteolipid protein (PLP) gene of a family with Pelizaeus-Merzbacher disease. Am J Med Genet, in press.
58. Cremers FP, Pfeiffer RA, van do Pol TJ, Hofker MH, Kruse TA, Wieringa B, Ropers HH: An interstitial duplication of the X chromosome in a male allows physical line mapping of probes from the Xq 13-q22 region. Hum Genet 1987:77:23-27.
59. Cassidy SB, Sheehan NC, Farrell DF, Grunnet M, Holmes GL, Zimmerman AW: Connatal Pelizaeus-Merzbacher disease: An autosomal recessive form. Pediatr Neurol 1987:3: 300-305.
60. Wadelius C, Lindstedt M, Pigg M, Egberg N, Pettersson U, Anvret M: Hemophilia B in a 46.XX female probably caused by non-random X inactivation. Clin Genet 1993:43:1-4.
61. Boespflug-Tanguy O, Cavagna A, Pham-Dinh D, Melki J, Dautigny A: Datugue B. group clinical PMD study: Pelizaeus-Merzbacher disease: Molecular geuetie analysis in 26 families. Ann Neurol 1991:30:450-451.
62. Bridge PJ, MacLeod PM, Lillicrap DP: Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cCNA. Am J Med Genet 1991:38:616-621.
63. Mӓenpӓӓ J, Lindahl E, Aula P, Savontaus ML: Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis. Clin Genet 1990:37:141-146.
64. Raskind WH, Wolff J, Hudson LD, Bird TD: RFLP detected by a genomic probe from the human X-linked proteolipid protein gene. PLP. Hum Mol Genet 1992:1:288.
65. Rutkowski JL, Tennekoon GL, McGillicuddy JE: Selective culture of mitotically active human Schwann cells from adult sural nerves. Ann Neurol 1992:31:580-586.
66. Nadon N, Arnheiter H, Chang S, Hudson L: A transgenic model for the functional analysis of proteolipid protein. Ann NY Acad Sci 1990; 605:377.
67. Dlouhy SR, Pratt VM, Boyadjiev S, Hodes ME: Pelizaeus-Merzbacher disease caused by de novo mutation (abstract). J Neuropathol Exp Neurol 1993:52:331.
68. Nance MA, Pratt VM, Boyadjiev S, Taylor S, Hodes ME, Dloulty SR: Adult-onset neurological disorder in a Pelizaeus-Merzbacher disease carrier mother (abstract). Am J Hum Genet 1993:53:1745.
69. Weimbs T, Dick T, Stoffel W, Boltshauser E: A point mutation at the X-chromosome prote-olipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis. Biol Chem Hoppe Seyler 1990:371: 1175-1183.
70. Pratt VM, Trofatter JA, Schinzel A, Conneally PM, Hodes ME: A new mutation in the prote-olipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. Am J Med Genet 1991:38:136-139.
71. Wolinsky JS, Jin R: Allelic variation in exon IV of the proteolipid protein gene: No relationship to multiple sclerosis. Ann Neurol 1991; 30:234-235.
72. Pratt VM, Boyadjiev S, Dloulty SR, Silver K, Der Kaloustian VM, Hodes ME: Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of PLP. Am J Med Genet, in press.
73. Otterbach B, Stoffel W, Ramaekers V: A novel mutation in the protcolipid protein gene lead, ing to Pelizaeus-Merzbacher disease. Biol Chem Hoppe Seyler 1993:374:75-83.
74. Pham-Dinh D. Popot JL, Bocspflug-Tanguy O, Landrieu P, Deleuze JF, Boue J, Jolles P, Dautigny A: Pelizaeus-Merzbacher disease: A valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proe Natl Acad Sci USA 1991:88: 7562-7566.
75. Iwaki A, Muramoto T, Iwaki I, Furumi H, Dario deLcon ML, Tateishi J, Fukumaki Y: A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 1993;2:19-22.
76. Pratt VM, Dloulty SR, Hodes ME: Pelizaeus-Merzbacher disease: A point mutation in exon 6 of the protcolipid protein (PLP) gene. Clin Genet, in press.
77. Fahim S, Riordan JR: Lipophilin (PLP)gene in X-linkcd myelin disorders. J Neurosci Res 1986:16:303-310.
78. Hodes ME, DeMyer WE, Pratt VM, Edwards MK, Dloulty SR: Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene (PLP). Ant J Med Genet, in press.