Neuronal loss in Pelizaeus - Merzbacher disease differs in various mutations of the proteolipid protein 1

Acta Neuropathologica

Volumn 118, Issue 4, 2009, Pages 531-539

  Pierson, Christopher R ^a,g   Woltjer, Randall L ^b   Hobson, Grace M ^c   Golden, Jeffrey A ^d   Kupsky, William J ^a   Schauer, Galen M ^e   Bird, Thomas D ^f   Skoff, Robert P ^a   Sima, Anders A F ^a   Garbern, James Y ^a  

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

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e KAISER PERMANENTE MEDICAL CENTER   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; CELL FUNCTION; CELL LOSS; CELL SPECIFICITY; CEREBELLUM; CLINICAL ARTICLE; CLINICAL FEATURE; DEMYELINATION; DISEASE ACTIVITY; DISEASE COURSE; GENE DELETION; GENE DUPLICATION; HIPPOCAMPUS; HUMAN; LEUKODYSTROPHY; MALE; MISSENSE MUTATION; NERVE CELL; NERVE FIBER DEGENERATION; NEUROPATHOLOGY; OLIGODENDROGLIA; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; THALAMUS; X CHROMOSOME LINKED DISORDER;

ADULT; AGE FACTORS; BRAIN; CELL DEATH; CHROMOSOMES, HUMAN, X; GENETIC MARKERS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; MYELIN PROTEOLIPID PROTEIN; MYELIN SHEATH; NEUROGLIA; NEURONS; PELIZAEUS-MERZBACHER DISEASE;

EID: 69949177941     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-009-0562-8     Document Type: Article

References (45)

1. Anderson TJ, Schneider A, Barrie JA et al (1998) Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene. J Comp Neurol 394:506-519
2. Baumann N, Pham-Dinh D (2001) Biology of oligodendrocyte and myelin in the mammalian central nervous system. Physiol Rev 81:871-927
3. Boison D, Stoffel W (1994) Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice. Proc Natl Acad Sci USA 91:11709-11713
4. Bond C, Si X, Crisp M et al (1997) 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 71:357-360
5. Boucher SE, Cypher MA, Carlock LR, Skoff RP (2002) Proteolipid protein gene modulates viability and phenotype of neurons. J Neurosci 22:1772-1783
6. Carango P, Funanage VL, Quiros RE, Debruyn CS, Marks HG (1995) Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol 38:610-617
7. Edgar JM, McLaughlin M, Yool D et al (2004) Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia. J Cell Biol 166:121-131
8. Garbern JY, Cambi F, Tang XM et al (1997) Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 19:205-218
9. Garbern JY, Yool DA, Moore GJ et al (2002) Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 125:551-561
10. Gow A, Friedrich VL Jr, Lazzarini RA (1994) Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J Neurosci Res 37:574-583
11. Gow A, Lazzarini RA (1996) A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat Genet 13:422-428
12. Griffiths I, Klugmann M, Anderson T et al (1998) Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 280:1610-1613
13. Harding B, Ellis D, Malcolm S (1995) A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. Neuropathol Appl Neurobiol 21:111-115
14. Hodes ME, Pratt VM, Dlouhy SR (1993) Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 15:383-394
15. Hudson LD, Puckett C, Berndt J, Chan J, Gencic S (1989) Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 86:8128-8131
16. Inoue K, Osaka H, Sugiyama N et al (1996) A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59:32-39
17. Inoue K, Osaka H, Thurston VC et al (2002) Genomic rearrangements resulting in plp1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet 71:838-853
18. Ip CW, Kroner A, Bendszus M et al (2006) Immune cells contribute to myelin degeneration and axonopathic changes in mice overexpressing proteolipid protein in oligodendrocytes. J Neurosci 26:8206-8216
19. Iwaki A, Muramoto T, Iwaki I et al (1993) A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 2:19-22
20. Kagawa T, Ikenaka K, Inoue Y et al (1994) Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron 13:427-442
21. Karim SA, Barrie JA, McCulloch MC et al (2007) PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease. Glia 55:341-351
22. Klugmann M, Schwab MH, Pühlhofer A et al (1997) Assembly of CNS myelin in the absence of proteolipid protein. Neuron 18:59-70
23. Koeppen AH, Robitaille Y (2002) Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol 61:747-759
24. Koeppen AH, Ronca NA, Greenfield EA, Hans MB (1987) Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. Ann Neurol 21:159-170
25. Mimault C, Giraud G, Courtois V et al (1999) 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 65:360-369
26. Nave KA, Lai C, Bloom FE, Milner RJ (1987) Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci USA 84:5665-5669
27. Pelizaeus F (1885) Über eine eigenthümliche Form Spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage (Multiple Sklerose). Arch Psychiatr Nervenkrankh 16:698-710
28. Pham-Dinh D, Birling MC, Roussel G, Dautigny A, Nussbaum JL (1991) Proteolipid DM-20 predominates over PLP in peripheral nervous system. Neuroreport 2:89-92
29. Pratt VM, Boyadjiev S, Green K, Hodes ME, Dlouhy SR (1995) Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus. Am J Med Genet 58:70-73
30. Raskind WH, Williams CA, Hudson LD, Bird TD (1991) Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 49:1355-1360
31. Readhead C, Schneider A, Griffiths I, Nave KA (1994) Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 12:583-595
32. Rosenfeld J, Freidrich VL Jr (1983) Axonal swellings in jimpy mice: Does lack of myelin cause neuronal abnormalities? Neuroscience 10:959-966
33. Saugier-Veber P, Munnich A, Bonneau D et al (1994) X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 6:257-262
34. Seitelberger F (1995) Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol 5:267-273
35. Shy ME, Hobson G, Jain M et al (2003) Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol 53:354-365
36. Simons M, Kramer EM, Macchi P et al (2002) 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 157:327-336
37. Sistermans EA, de Coo RF, de Wijs IJ, van Oost BA (1998) Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 50:1749-1754
38. Skoff RP, Bessert DA, Cerghet M et al (2004) The myelin proteolipid protein gene modulates apoptosis in neural and non-neural tissues. Cell Death Differ 11:1247-1257
39. Southwood CM, Garbern J, Jiang W, Gow A (2002) The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 36:585-596
40. Trapp BD, Peterson J, Ransohoff RM et al (1998) Axonal transection in the lesions of multiple sclerosis. N Engl J Med 338:278-285
41. van der Knaap MS, Valk J. (2005) Magnetic resonance of myelin, myelination, and myelin disorders. Springer, New York, p 1084
42. Watanabe I, Patel V, Goebel HH et al (1973) Early lesion of Pelizaeus-Merzbacher disease: Electron microscopic and biochemical study. J Neuropathol Exp Neurol 32:313-333
43. Wilkus RJ, Farrell DF (1976) Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease. Neurology 26:1042-1045
44. Yamamoto T, Nanba E, Zhang H et al (1998) Jimpy msd mouse mutation and connatal Pelizaeus-Merzbacher disease. Am J Med Genet 75:439-440
45. Yin X, Baek RC, Kirschner DA et al (2006) Evolution of a neuroprotective function of central nervous system myelin. J Cell Biol 172:469-478