Pelizaeus-Merzbacher Disease

Myelin Biology and Disorders

Volumn 2, Issue , 2004, Pages 867-885

  Hudson, Lynn D ^a   Garbern, James Y ^b   Kamholz, John A ^b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 24644492633     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012439510-7/50090-5     Document Type: Chapter

References (124)

1. Almazan G., Vela J.M., Molina-Holgado E., Guaza C. Re-evaluation of nestin as a marker of oligodendrocyte lineage cells. Microsc. Res. Tech. 2001, 52(6):753-765.
2. Anderson T.J., Montague P., Nadon N., Nave K.A., Griffiths I.R. Modification of Schwann cell phenotype with Plp transgenes: Evidence that the PLP and DM20 isoproteins are targeted to different cellular domains. J. Neurosci. Res. 1997, 50(1):13-22.
3. Anderson T.J., Schneider A., Barrie J.A., Klugmann M., McCulloch M.C., Kirkham D., Kyriakides E., Nave K.-A., Griffiths I.R. Late-Onset Neurodegeneration in Mice with Increased Dosage of the Proteolipid Protein Gene. J. Comp. Neurol. 1998, 394:506-519.
4. Aridor M., Balch W.E. Integration of endoplasmic reticulum signaling in health and disease. Nat. Med. 1999, 5:745-751.
5. Arroyo E.J., Xu T., Grinspan J., Lambert S., Levinson S.R., Brophy P.J., Peles E., Scherer S.S. Genetic dysmyelination alters the molecular architecture of the nodal region. J. Neurosci. 2002, 22(5):1726-1737.
6. Bizzozero O.A., McGarry J.F., Lees M.B. Autoacylation of myelin proteolipid protein with acyl coenzyme A. Biol Chem. 1987, 262(28):13550-13557.
7. Boespflug-Tanguy O., Giraud G., Mimault C., Isabelle V., Dinh D.P. Heterogeneous rearrangements of the PLP genomic region in Pelizaeus-Merzbacher Disease: Genotype-phenotype correlation in 41 patients. Am. J. Hum. Genet. 1999, 65:1597. Program Nr.
8. Boison D., Bussow H., D'Urso D., Muller H.W., Stoffel W. Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths. J. Neurosci. 1995, 15(8):5502-5513.
9. Boison D., Stoffel W. Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice. Proc. Natl. Acad. Sci. U. S. A. 1994, 91:11709-11713. (24).
10. Bond C., Si X., Crisp M., Wong P., Paulson G.W., Boesel C.P., Dlouhy S.R., Hodes M.E. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene. Am. J. Med. Genet. 1997, 71:357-360.
11. Bongarzone E.R., Campagnoni C.W., Kampf K., Jacobs E.C., Handley V.W., Schonmann V., Campagnoni A.T. Identification of a New Exon in the Myelin Proteolipid Protein Gene Encoding Novel Protein Isoforms That Are Restricted to the Somata of Oligodendrocytes and Neurons. J. Neurosci. 1999, 19(19):8349-8357.
12. Bonneau D., Rozet J.M., Bulteau C., Berthier M., Mettey R., Gil R., Munnich A., Le Merrer M. X linked spastic paraplegia (SPG2): Clinical heterogeneity at a single gene locus. J. Med. Genet. 1993, 30(5):381-384.
13. Boulloche J., Aicardi J. Pelizaeus-Merzbacher disease: Clinical and nosological study. J. Child Neurol. 1986, 1(3):233-239.
14. Brustle O., Jones K.N., Learish R.D., Karram K., Choudhary K., Wiestler O.D., Duncan I.D., McKay R.D. Embryonic stem cell-derived glial precursors: A source of myelinating transplants. Science 1999, 285(5428):754-756.
15. Cailloux F., Gauthier-Barichard F., Mimault C., Isabelle V., Courtois V., Giraud G., Dastugue B., Boespflug-Tanguy O. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Eur. J. Hum. Genet. 2000, 8(11):837-845.
16. Cambi F., Tang X.M., Cordray P., Fain P.R., Keppen L.D., Barker D.F. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 1996, 46(4):1112-1117.
17. 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(7):665-669.
18. Campagnoni C.W., Garbay B., Micevych P., Pribyl T., Kampf K., Handley V.W., Campagnoni A.T. DM20 mRNA splice product of the myelin proteolipid protein gene is expressed in the murine heart. J. Neurosci. Res. 1992, 33(1):148-155.
19. Carrozzo R., Arrigo G., Rossi E., Bardoni B., Cammarata M., Gandullia P., Gatti R., Zuffardi O. Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter→q24::q21.32→qter) and random X inactivation. Am. J. Med. Genet. 1997, 72(3):329-334.
20. Cremers F.P., Pfeiffer R.A., van de Pol T.J., Hofker M.H., Kruse T.A., Wieringa B., Ropers H.H. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum. Genet. 1987, 77(1):23-27.
21. Cuddon P.A., Lipsitz D., Duncan I.D. Myelin mosaicism and brain plasticity in heterozygous females of a canine X-linked trait. Ann. Neurol. 1998, 44(5):771-779.
22. De Stefano N., Matthews P.M., Narayanan S., Francis G.S., Antel J.P., Arnold D.L. Axonal dysfunction and disability in a relapse of multiple sclerosis: Longitudinal study of a patient. Neurology 1997, 49(4):1138-1141.
23. Dickinson P.J., Griffiths I.R., Barrie J.M., Kyriakides E., Pollock G.F., Barnett S.C. Expression of the DM-20 isoform of the PLP gene in olfactory nerve ensheathing cells: Evidence from developmental studies. J. Neurocytol. 1997, 26(3):181-189.
24. Diehl H.J., Schaich M., Budzinski R.M., Stoffel W. Individual exons encode the integral membrane domains of human myelin proteolipid protein. Proc. Natl. Acad. Sci. U. S. A. 1986, 83:9807-9811. [published erratum appears in Proc Natl Acad Sci U S A 1991 Apr;86(6), 617-8], (24).
25. Duncan I.D., Grever W.E., Zhang S.C. Repair of myelin disease: Strategies and progress in animal models. Mol. Med. Today 1997, 3(12):554-561.
26. Duncan I.D., Hammang J.P., Jackson K.F., Wood P.M., Bunge R.P., Langford L. Transplantation of oligodendrocytes and Schwann cells into the spinal cord of the myelin-deficient rat. J. Neurocytol. 1988, 17(3):351-360.
27. Duncan I.D., Milward E.A. Glial cell transplants: Experimental therapies of myelin diseases. Brain Pathol. 1995, 5(3):301-310.
28. Ellis D., Malcolm S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat. Genet. 1994, 6(4):333-334.
29. Fanarraga M.L., Griffiths I.R., McCulloch M.C., Barrie J.A., Cattanach B.M., Brophy P.J., Kennedy P.G. Rumpshaker: An X-linked mutation affecting CNS myelination. A study of the female heterozygote. Neuropathol. Appl. Neuro. Biol. 1991, 17(4):323-334.
30. Fu H., Qi Y., Tan M., Cai J., Takebayashi H., Nakafuku M., Richardson W., Qiu M. Dual origin of spinal oligodendrocyte progenitors and evidence for the cooperative role of Olig2 and Nkx2.2 in the control of oligodendrocyte differentiation. Development 2002, 129(3):681-693.
31. Fu L., Matthews P.M., De Stefano N., Worsley K.J., Narayanan S., Francis G.S., Antel J.P., Wolfson C., Arnold D.L. Imaging axonal damage of normal-appearing white matter in multiple sclerosis. Brain 1998, 121:103-113. (Pt 1).
32. Garbern J.Y., Cambi F., Lewis R., Shy M., Sima A., Kraft G., Vallat J.M., Bosch E.P., Hodes M.E., Dlouhy S., Raskind W., Bird T., Macklin W., Kamholz J. Peripheral neuropathy caused by proteolipid protein gene mutations. Ann. N.Y. Acad. Sci 1999, 883:351-365.
33. Garbern J.Y., Cambi F., Tang X.M., Sima A.A., Vallat J.M., Bosch E.P., Lewis R., Shy M., Sohi J., Kraft G., Chen K.L., Joshi I., Leonard D.G., Johnson W., Raskind W., Dlouhy S.R., Pratt V., Hodes M.E., Bird T., Kamholz J. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 1997, 19(1):205-218.
34. Garbern J.Y., Yool D.A., Moore G.J., Wilds I.B., Faulk M.W., Klugmann M., Nave K.A., Sistermans E.A., van der Knaap M.S., Bird T.D., Shy M.E., Kamholz J.A., Griffiths I.R. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 2002, 125:551-561. (Pt 3).
35. Gencic S., Abuelo D., Ambler M., Hudson L.D. 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. 1989, 45(3):435-442.
36. Gow A., Gragerov A., Gard A., Colman D.R., Lazzarini R.A. Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath. J. Neurosci. 1997, 17(1):181-189.
37. Gow A., Lazzarini R.A. A cellular mechanism governing the severity of Pelizaeus-Merzbacher Disease. Nat. Genet. 1996, 13(4):422-428.
38. Gow A., Southwood C.M., Lazzarini R.A. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease. J. Cell Biol. 1998, 140(4):925-934.
39. Griffiths I., Klugmann M., Anderson T., Yool D., Thomson C., Schwab M.H., Schneider A., Zimmermann F., McCulloch M., Nadon N., Nave K.-A. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 1998, 280:1610-1613.
40. Griffiths I.R., Dickinson P., Montague P. Expression of the proteolipid protein gene in glial cells of the post-natal peripheral nervous system of rodents. Neuropathol. Appl. Neurobiol. 1995, 21(2):97-110.
41. Griffiths I.R., Mitchell L.S., McPhilemy K., Morrison S., Kyriakides E., Barrie J.A. Expression of myelin protein genes in Schwann cells. J. Neurocytol. 1989, 18(3):345-352.
42. Grossman R.I., Lenkinski R.E., Ramer K.N., Gonzalez-Scarano F., Cohen J.A. MR proton spectroscopy in multiple sclerosis. AJNR Am. J. Neuroradiol. 1992, 13(6):1535-1543.
43. Gudz T.I., Schneider T.E., Haas T.A., Macklin W.B. Myelin proteolipid protein forms a complex with integrins and may participate in integrin receptor signaling in oligodendrocytes. J. Neurosci 2002, 22(17):7398-7407.
44. Harding B., Ellis D., Malcolm S. A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. Neuropathol. Appl. Neurobiol. 1995, 21(2):111-115.
45. Helynck G., Luu B., Nussbaum J.L., Picken D., Skalidis G., Trifilieff E., Van Dorsselaer A., Seta P., Sandeaux R., Gavach C., Heitz F., Simon D., Spach G. Brain proteolipids. Isolation, purification and effect on ionic permeability of membranes. Eur. J. Biochem. 1983, 133(3):689-695.
46. Hobson G.M., Davis A.P., Stowell N.C., Kolodny E.H., Sistermans E.A., de Coo I.F.M., Funanage V.L., Marks H.G. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology 2000, 55:1089-1096.
47. Hodes M.E., Blank C.A., Pratt V.M., Morales J., Napier J., Dlouhy S.R. 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(2):121-125.
48. Hodes M.E., DeMyer W.E., Pratt V.M., Edwards M.K., Dlouhy S.R. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene. Am. J. Med. Genet. 1995, 55(4):397-401.
49. Hodes M.E., Pratt V.M., Dlouhy S.R. Genetics of Pelizaeus-Merzbacher disease. Dev. Neurosci. 1993, 15(6):383-394.
50. Hodes M.E., Woodward K., Spinner N.B., Emanuel B.S., Enrico-Simon A., Kamholz J., Stambolian D., Zackai E.H., Pratt V.M., Thomas I.T., Crandall K., Dlouhy S.R., Malcolm S. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. Am. J. Hum. Genet. 2000, 67(1):14-22.
51. Hodes M.E., Zimmerman A.W., Aydanian A., Naidu S., Miller N.R., Oller J.L.G., Barker B., Aleck K.A., Hurley T.D., Dlouhy S.R. 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(2):132-139.
52. Hudson L.D., 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. (20).
53. Ikenaka K., Furuichi T., Iwasaki Y., Moriguchi A., Okano H., Mikoshiba K. Myelin proteolipid protein gene structure and its regulation of expression in normal and jimpy mutant mice. J. Mol. Biol. 1988, 199(4):587-596.
54. Ikenaka K., Kagawa T., Mikoshiba K. Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells. J. Neurochem. 1992, 58(6):2248-2253.
55. Inoue K., Kanai M., Tanabe Y., Kubota T., Kashork C.D., Wakui K., Fukushima Y., Lupski J.R., Shaffer L.G. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat. Diagn. 2001, 21(13):1133-1136.
56. Inoue K., Lupski J.R. Molecular mechanisms for genomic disorders. Annu. Rev. Genomics Hum. Genet. 2002, 3:199-242.
57. Inoue K., Osaka H., Imaizumi K., Nezu A., Takanashi J., Arii J., Murayama K., Ono J., Kikawa Y., Mito T., Shaffer L.G., Lupski J.R. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations. Ann. Neurol. 1999, 45(5):624-632.
58. Inoue K., Osaka H., Sugiyama N., Kawanishi C., Onishi H., Nezu A., Kimura K., Kimura S., Yamada Y., Kosaka K. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am. J. Hum. Genet. 1996, 59:32-39.
59. Inoue K., Osaka H., Thurston V.C., Clarke J.T., Yoneyama A., Rosenbarker L., Bird T.D., Hodes M.E., Shaffer L.G., Lupski J.R. Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females. Am. J. Hum. Genet. 2002, 71(4):838-853.
60. Inoue K., Tanabe Y., Lupski J.R. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann. Neurol. 1999, 46(3):313-318.
61. Inoue K., Tanaka H., Scaglia F., Araki A., Shaffer L.G., Lupski J.R. Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement. Ann. Neurol. 2001, 50(6):747-754.
62. Johnston A.W., McKusick V.A. A sex-linked recessive form of spastic paraplegia. Am. J. Hum. Genet. 1962, 14:83-94.
63. Johnston J.A., Ward C.L., Kopito R.R. Aggresomes: A cellular response to misfolded proteins. J. Cell Biol. 1998, 143(7):1883-1898.
64. Kaufman R.J., Scheuner D., Schroder M., Shen X., Lee K., Liu C.Y., Arnold S.M. The unfolded protein response in nutrient sensing and differentiation. Nat. Rev. Mol. Cell Biol. 2002, 3(6):411-421.
65. Kawanishi C., Sugiyama N., Osaka H., Inoue K., Suzuki K., Onishi H., Yamada Y., Nezu A., Kimura S., Kosaka K. Pelizaeus-Merzbacher disease: A novel mutation in the 5'-untranslated region of the proteolipid protein gene. Hum. Mutat. 1996, 7(4):355-357.
66. Kaye E.M., Doll R.F., Natowicz M.R., Smith F.I. Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: Clinical and molecular studies. Ann. Neurol. 1994, 36(6):916-919.
67. Klugmann M., Schwab M.H., Pühlhofer A., Schneider A., Zimmermann F., Griffiths I.R., Nave K.-A. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 1997, 18(1):59-70.
68. Kobayashi H., Hoffman E.P., Marks H.G. The rumpshaker mutation in spastic paraplegia. Nat. Genet. 1994, 7(3):351-352.
69. Kopito R.R., Ron D. Conformational disease. Nat. Cell Biol. 2000, 2(11):E207-E209.
70. Lachapelle F., Lapie P., Gansmuller A., Villarroya H., Baumann N., Gumpel M. What have we learned about the jimpy phenotype expression by intracerebral transplantations?. Ann. N.Y. Acad. Sci. 1990, 605:332-345.
71. Macklin W.B., Campagnoni C.W., Deininger P.L., Gardinier M.V. Structure and expression of the mouse myelin proteolipid protein gene. J. Neurosci. Res. 1987, 18(3):383-394.
72. Maenpaa J., Lindahl E., Aula P., Savontaus M.L. Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis. Clin. Genet. 1990, 37(2):141-147.
73. McLaughlin M., Hunter D.J., Thomson C.E., Yool D., Kirkham D., Freer A.A., Griffiths I.R. Evidence for possible interactions between PLP and DM20 within the myelin sheath. Glia 2002, 39(1):31-36.
74. Merzbacher L. Eine eigenarige familiär-hereditare Erkrankungsform extra-corticalis congenita). Z ges. Neurol. Psych. 1910, 3:1-138.
75. Mimault C., Giraud G., Courtois V., Cailloux F., Boire J.Y., Dastugue B., Boespflug-Tanguy O. 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. The Clinical European Network on Brain Dysmyelinating Disease. Am. J. Hum. Genet. 1999, 65(2):360-369.
76. Nave K.-A., Boespflug-Tanguy O. X-linked developmental defects of myelination: From mouse mutants to human genetic diseases. Neuroscientist 1996, 2(1):33-43.
77. 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.
78. Ono J., Harada K., Sakurai K., Kodaka R., Shimidzu N., Tanaka J., Nagai T., Okada S. MR diffusion imaging in Pelizaeus-Merzbacher disease. Brain & Development 1994, 16(3):219-223.
79. Osaka H., Kawanishi C., Inoue K., Onishi H., Kobayashi T., Sugiyama N., Kosaka K., Nezu A., Fujii K., Sugita K., Kodama K., Murayama K., Murayama S., Kanazawa I., Kimura S. Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity. Ann. Neurol. 1999, 45(1):59-64.
80. Osaka H., Kawanishi C., Inoue K., Uesugi H., Hiroshi K., Nishiyama K., Yamada Y., Suzuki K., Kimura S., Kosaka K. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem. Biophys. Res. Commun. 1995, 215(3):835-841.
81. Pelizaeus F. Über eine eigenthümliche Form Spastischer Lähmung mit Cerebralerschinungen auf hereditärer Grundlage (Multiple Sklerose). Arch. Psychiatr. Nervenkr. 1885, 16:698-710.
82. Pham-Dinh D., Birling M.C., Roussel G., Dautigny A., Nussbaum J.L. Proteolipid DM-20 predominates over PLP in peripheral nervous system. Neuroreport 1991, 2(2):89-92.
83. Pingault V., Girard M., Bondurand N., Dorkins H., Van Maldergem L., Mowat D., Shimotake T., Verma I., Baumann C., Goossens M. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum. Genet. 2002, 111(2):198-206.
84. Pribyl T.M., Campagnoni C., Kampf K., Handley V.W., Campagnoni A.T. The major myelin protein genes are expressed in the human thymus. J. Neurosci. Res. 1996, 45(6):812-819.
85. Puckett C., Hudson L., Ono K., Friedrich V., Benecke J., Dubois-Dalcq M., Lazzarini R.A. Myelin-specific proteolipid protein is expressed in myelinating Schwann cells but is not incorporated into myelin sheaths. J. Neurosci. Res. 1987, 18(4):511-518.
86. Qi Y., Cai J., Wu Y., Wu R., Lee J., Fu H., Rao M., Sussel L., Rubenstein J., Qiu M. Control of oligodendrocyte differentiation by the Nkx2.2 homeodomain transcription factor. Development 2001, 128(14):2723-2733.
87. Raskind W.H., Williams C.A., Hudson L.D., Bird T.D. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am. J. Hum. Genet. 1991, 49(6):1355-1360.
88. Regis S., Filocamo M., Mazzotti R., Cusano R., Corsolini F., Bonuccelli G., Stroppiano M., Gatti R. Prenatal diagnosis of Pelizaeus-Merzbacher disease: Detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR. Prenat. Diagn. 2001, 21(8):668-671.
89. Rosenbluth J., Stoffel W., Schiff R. Myelin structure in proteolipid protein (PLP)-null mouse spinal cord. J. Comp. Neurol. 1996, 371(2):336-344.
90. Rosenfeld J., Freidrich V.L. Axonal swellings in jimpy mice: Does lack of myelin cause neuronal abnormalities?. Neuroscience 1983, 10(3):959-966.
91. Ross N.W., Braun P.E. Acylation in vitro of the myelin proteolipid protein and comparison with acylation in vivo: Acylation of a cysteine occurs nonenzymatically. Neurosci Res. 1988, 21(1):35-44.
92. Sambuughin N., Sivakumar K., Selenge B., Baasanjav D., Goldfarb L.G. New mutation in exon 3B of proteolipid protein gene in Mongolian family with a benign variant of X linked spastic paraplegia. Am. J. Hum. Genet. 1998, 63(4):A383.
93. Saugier-Veber P., Munnich A., Bonneau D., Rozet J.M., 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(3):257-262.
94. Schindler P., Luu B., Sorokine O., Trifilieff E., Van Dorsselaer A. Developmental study of proteolipids in bovine brain: A novel proteolipid and DM-20 appear before proteolipid protein (PLP) during myelination. J. Neurochem. 1990, 55(6):2079-2085.
95. Seitelberger F. Die Pelizaeus-Merzbachersche Krankheit. Klinischanatomische Untersuchungen zum Problem ihrer Stellung unter den diffusen Sklerosen. Wien Z Nervenheilk 1954, 9:228-289.
96. Seitelberger F. Pelizaeus-Merzbacher disease. Handbook of Clinical Neurology 1970, 10:150-220. North Holland Publishing, Amsterdam. P.J. Vinken, G.W. Bruyn, G. (Eds.).
97. Shaffer L.G., Kennedy G.M., Spikes A.S., Lupski J.R. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory. Am. J. Med. Genet. 1997, 69(3):325-331.
98. Simons M., Kramer E.M., Macchi P., Rathke-Hartlieb S., Trotter J., Nave K.A., Schulz J.B. Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: Implications for Pelizaeus-Merzbacher disease. J. Cell Biol. 2002, 157(2):327-336.
99. Simons M., Kramer E.M., Thiele C., Stoffel W., Trotter J. Assembly of Myelin by Association of Proteolipid Protein with Cholesterol- and Galactosylceramide-rich Membrane Domains. J. Cell Biol. 2000, 151(1):143-154.
100. Sistermans E.A., de Coo R.F., de Wijs I.J., van Oost B.A. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 1998, 50(6):1749-1754.
101. Sistermans E.A., de Wijs I.J., de Coo R.F.M., Smit L.M.E., Menko F.H., van Oost B.A. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family. Hum. Genet. 1996, 97(3):337-339.
102. Sivakumar K., Sambuughin N., Selenge B., Nagle J.W., Baasanjav D., Hudson L.D., Goldfarb L.G. 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(5):680-683.
103. Skalidis G., Trifilieff E., Luu B. Selective extraction of the DM-20 brain proteolipid. J. Neurochem. 1986, 46(1):297-299.
104. Southwood C., Gow A. Molecular pathways of oligodendrocyte apoptosis revealed by mutations in the proteolipid protein gene. Microsc. Res. Tech. 2001, 52(6):700-708.
105. Southwood C.M., Garbern J., Jiang W., Gow A. The unfolded protein response modulates diseases severity in Pelizaeus-Merzbacher disease. Neuron. 2002, 36(4):585-596.
106. 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(1):19-30.
107. Stecca B., Southwood C.M., Gragerov A., Kelley K.A., Friedrich V.L., Gow A. The evolution of lipophilin genes from invertebrates to tetrapods: DM-20 cannot replace proteolipid protein in CNS myelin. J. Neurosci. 2000, 20(11):4002-4010.
108. Stoffel W., Hillen H., Giersiefen H. Structure and molecular arrangement of proteolipid protein of central nervous system myelin. Proc. Natl. Acad. Sci. U. S. A. 1984, 81:5012-5016. (16).
109. Stolt C.C., Rehberg S., Ader M., Lommes P., Riethmacher D., Schachner M., Bartsch U., Wegner M. Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10. Genes Dev. 2002, 16(2):165-170.
110. Strautnieks S., Rutland P., Winter R.M., Baraitser M., Malcolm S. Pelizaeus-Merzbacher disease: Detection of mutations Thr181-Pro and Leu223-Pro in the proteolipid protein gene, and prenatal diagnosis. Am. J. Hum. Genet. 1992, 51(4):871-878.
111. Taylor J.P., Hardy J., Fischbeck K.H. Toxic proteins in neurodegenerative disease. Science 2002, 296(5575):1991-1995.
112. Timsit S., Martinez S., Allinquant B., Peyron F., Puelles L., Zalc B. Oligodendrocytes originate in a restricted zone of the embryonic ventral neural tube defined by DM-20 mRNA expression. J. Neurosci. 1995, 15(2):1012-1024.
113. Timsit S.G., Bally-Cuif L., Colman D.R., Zalc B. DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse. J. Neurochem. 1992, 58(3):1172-1175.
114. Trapp B.D., Peterson J., Ransohoff R.M., Rudick R., Mork S., Bo L. Axonal transection in the lesions of multiple sclerosis. N. Engl. J. Med. 1998, 338(5):278-285.
115. Trofatter J.A., Dlouhy S.R., DeMyer W., Conneally P.M., Hodes M.E. Pelizaeus-Merzbacher disease: Tight linkage to proteolipid protein gene exon variant. Proc. Natl. Acad. Sci. USA 1989, 86:9427-9430. (23).
116. Wahle S., Stoffel W. Cotranslational integration of myelin proteolipid protein (PLP) into the membrane of endoplasmic reticulum: Analysis of topology by glycosylation scanning and protease domain protection assay. Glia 1998, 24(2):226-235.
117. Wang P.J., Hwu W.L., Lee W.T., Wang T.R., Shen Y.Z. Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease. Pediatr. Neurol. 1997, 17(2):125-128.
118. Weimbs T., Stoffel W. Proteolipid protein (PLP) of CNS myelin: Positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP. Biochemistry 1992, 31(49):12289-12296.
119. Woodward K., Kendall E., Vetrie D., Malcolm S. Pelizaeus-Merzbacher disease: Identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am. J. Hum. Genet. 1998, 63(1):207-217.
120. Yool D., Klugmann M., Barrie J.A., McCulloch M.C., Nave K.A., Griffiths I.R. Observations on the structure of myelin lacking the major proteolipid protein. Neuropathol. Appl. Neuro Biol. 2002, 28(1):75-78.
121. Yu W.P., Collarini E.J., Pringle N.P., Richardson W.D. Embryonic expression of myelin genes: Evidence for a focal source of oligodendrocyte precursors in the ventricular zone of the neural tube. Neuron 1994, 12(6):1353-1362.
122. Zackai E.H., Stambolian D., Enrico A., McDonald-McGinn D.M., Kamholz J., Emanuel B.S., Spinner N.B. Familial Pelizaeus Merzbacher disease with a pericentric inversion of the X chromosome [inv(X) (p11.4q22.1)] resulting in PLP gene duplication. Am. J. Hum. Genet. 1997, 61:A144.
123. Zeman W., DeMyer W., Falls H.F. Pelizaeus-Merzbacher disease: A study in nosology. J. Neuropath. Exp. Neurol. 1964, 23:334-354.
124. Zhang S.C., Duncan I.D. Remyelination and restoration of axonal function by glial cell transplantation. Prog. Brain Res. 2000, 127:515-533.