Peripheral neuropathy caused by proteolipid protein gene mutations

Annals of the New York Academy of Sciences

Volumn 883, Issue , 1999, Pages 351-365

  Garbern, James Y ^a   Cambi, Franca ^b   Lewis, Richard ^a   Shy, Michael ^a   Sima, Anders ^a   Kraft, George ^c   Vallat, J M ^d   Bosch, E P ^e   Hodes, M E ^f   Dlouhy, Stephen ^f   Raskind, Wendy ^c   Bird, Thomas ^c   Macklin, Wendy ^g   Kamholz, John ^a  

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

^b THOMAS JEFFERSON UNIVERSITY   (United States)

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

^d LIMOGES UNIVERSITY HOSPITAL   (France)

^e MAYO CLINIC   (United States)

^f INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CHEMICAL STRUCTURE; CHEMISTRY; FAMILY; FEMALE; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MOUSE; MUTATION; MYELINATED NERVE; PATHOLOGY; PELIZAEUS MERZBACHER DISEASE; PERIPHERAL NERVE; PROTEIN CONFORMATION; ULTRASTRUCTURE;

AMINO ACID SEQUENCE; ANIMALS; FAMILY; FEMALE; HUMANS; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MYELIN PROTEOLIPID PROTEIN; NERVE FIBERS, MYELINATED; PELIZAEUS-MERZBACHER DISEASE; PERIPHERAL NERVES; PROTEIN CONFORMATION;

EID: 0033554340     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08597.x     Document Type: Article

References (51)

1. LEES, M.B. & O.A. BIZZOZERO. 1992. Structure and acylation of proteolipid protein. In Myelin: Biology and Chemistry. R.E. Martenson, Ed.: 237-255. CRC Press. Boca Raton, FL.
2. NAVE, K.A., C. LAI, F.E. BLOOM & R.J. MILNER. 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. Null. Acad. Sci. USA 84: 5665-5669.
3. BIZZOZERO, O.A., J.F. MCGARRY & M.B. LEES, 1986. Acylation of rat brain myelin proteolipid protein with different fatty acids. J. Neurochem. 47: 772-778.
4. WEIMBS, T. & W. STOFFEL. 1992. Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide-bonded, and fatty acid thiocster-linked cysteine residues and implications for the membrane topology of PLP. Biochemistry 31: 12289-12296.
5. KLUGMANN, M., M.H. SCHWAB, A. PÜHLHOFER, et al. 1997. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 18: 59-70.
6. KNAPP, P.E. 1996. Proteolipid protein: is it more than just a structural component of myelin? Dev. Neurosci. 18: 297-308.
7. GRIFFITHS, I., M. KLUGMANN, T. ANDERSON, et al. 1998. Current concepts of PLP and its role in the nervous system. Microsc. Res. Tech. 41: 344-358.
8. LEVINE, S.M., D. WONG & W.B. MACKLIN. 1990. Developmental expression of proteolipid protein and DM20 mRNAs and proteins in the rat brain. Dev. Neurosci. 12: 235-250.
9. CAMPAGNONI, C.W., B. GARBAY, P. MICEVYCH, et al. 1992. DM20 mRNA splice product of the myelin proteolipid protein gene is expressed in the murine heart. J. Neurosci. Res. 33: 148-155.
10. YU, W.P., E.J. COLLARINI, N.P. PRINGLE & W.D. RICHARDSON. 1994. Embryonic expression of myelin genes: evidence for a focal source of oligodendrocyte precursors in the ventricular zone of the neural tube. Neuron 12: 1353-1362.
11. PUCKETT, C., L. HUDSON, K. ONO, et al. 1987. Myelin-specific proteolipid protein is expressed in myelinating Schwann cells but is not incorporated into myelin sheaths. J. Neurosci. Res. 18: 511-518.
12. TRAPP, B.D., T. MOENCH, M. PULLEY, et al. 1987. Spatial segregation of mRNA encoding myelin-specific proteins. Proc. Natl. Acad. Sci. USA 84: 7773-7777.
13. KAMHOLZ, J., M. SESSA, S. SCHERER, et al. 1992. Structure and expression of proteolipid protein in the peripheral nervous system. J. Neurosci. Res. 31: 231-244.
14. PHAM-DINH, D., M.C. BIRLING, G. ROUSSEL, et al. 1991. Protcolipid DM-20 predominates over PLP in peripheral nervous system. Neuroreport 1: 89-92.
15. GARBERN, J.Y., F. CAMBI, X.M. TANG, et al. 1997. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 19: 205-218.
16. GRIFFITHS, I.R., P. DICKINSON & P. MONTAGUE. 1995. Expression of the proteolipid protein gene in glial cells of the post-natal peripheral nervous system of rodents. Neuropathol. Appl. Neurobiol. 21: 97-110.
17. SEITELBERGER, F., S. URBANITS & K.A. NAVE. 1996. Pelizaeus-Merzbacher disease. In Neurodystrophies and Ncurolipidoscs. H.W. Moser, Ed.: 559-579. Elsevier Science. Amsterdam.
18. KOEPPEN, A. 1992. Pelizaeus-Merzbacher disease: X-linked proteolipid protein deficiency in the human Central Nervous System. In Myelin: Biology and Chemistry. R.E. Martenson, Ed.: 703-721. CRC Press. Boca Raton, FL.
19. SEITELBERGER, F. 1995. Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol. 5: 267-273.
20. SISTERMANS, E.A., R.F. DE COO, I.J. DE WIJS & B.A. VAN OOST. 1998. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 50: 1749-1754.
21. LUPSKI, J.R. 1998. Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol. Med. 4: 3-11.
22. WOODWARD, K., E. KENDALL, D. VETRIE & S. MALCOLM. 1998. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am. J. Hum. Genet. 63: 207-217.
23. KAGAWA, T., K. IKENAKA, Y. INOUE, et al. 1994. Glial cell degeneration and hypomyelinalion caused by overexpression of myelin proteolipid protein gene. Neuron 13: 427-442.
24. KOEPPEN, A.H., N.A. RONCA, E.A. GREENFIELD & M.B. HANS. 1987. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease. Ann. Neurol. 21: 159-170.
25. SKOFF, R.P. 1995. Programmed cell death in the dysmyelinating mutants. Brain Pathol. 5: 283-288.
26. SCHNEIDER, A.M., I.R. GRIFFITHS, C. READHEAD & K.A. NAVE. 1995. Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgenc for myelin proteolipid protein. Proc. Natl. Acad. Sci. USA 92: 4447-4451.
27. GOW, A., V.L. FRIEDRICH, JR. & R.A. LAZZARINI. 1994. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J. Neurosci. Res. 37: 574-583.
28. SINOWAY, M.P., K. KITAGAWA, S. TIMSIT, et al. 1994. Proteolipid protein interactions in transfectants: implications for myelin assembly. J. Neurosci. Res. 37: 551-562.
29. GOW, A., C.M. SOUTHWOOD & R.A. LAZZARINI. 1998. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease. J. Cell Biol. 140: 925-934.
30. GOW, A. & R.A. LAZZARINI, 1996. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat. Genet. 13: 422-428.
31. SAUGIER-VEBER, P., A. MUNNICH, D. BONNEAU, et al. 1994. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat. Genet. 6: 257-262.
32. OSAKA, H., C. KAWANISHI, K. INOUE, et al. 1995. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem. Biophys. Res. Commun. 215: 835-841.
33. KOBAYASHI, H., E.P. HOFFMAN & H.G. MARKS. 1994. The rumpshaker mutation in spastic paraplegia. Nat. Genet. 7: 351-352.
34. SCHNEIDER, A., P. MONTAGUE, I. GRIFFITHS, et al. 1992. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Nature 358: 758-761.
35. HODES, M.E., V.M. PRATT & S.R. DLOUHY. 1993. Genetics of Pelizaeus-Merzbacher disease. Dev. Neurosci. 15: 383-394.
36. HARDING, B., D. ELLIS & S. MALCOLM. 1995. A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. Neuropathol. Appl. Neurobiol. 21: 111-115.
37. HODES, M.E., C.A. BLANK, V.M. PRATT, et al. 1997. 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. 69: 121-125.
38. RASKIND, W.H., C.A. WILLIAMS, L.D. HUDSON & T.D. BIRD. 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.
39. TROFATTER, J.A., S.R. DLOUHY, W. DEMYER, et al. 1989. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc. Natl. Acad. Sci. USA 96: 9427-9430.
40. GAMSTORP, I. 1963. Normal conduction velocity of ulnar, median and peroneal nerves in infancy, childhood and adolescence. Acta Fed. Scand. 146(Suppl.): 68-76.
41. BAER, R.D. & E.W. JOHNSON. 1965. Motor nerve conduction velocities in normal children. Arch. Phys. Med. 46: 698-704.
42. SUNDERLAND, S. 1968. Nerve and Nerve Injuries. Williams & Wilkins Co. Baltimore, MD.
43. ROBERTSON, D.M. & A.A. SIMA. 1980. Diabetic neuropathy in the mutant mouse [C57BL/ks(db/db)]: a morphomelric study. Diabetes 29: 60-67.
44. INOUE, K., H. OSAKA, N. SUGIYAMA, et al. 1996. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am. J. Hum. Genet. 59: 32-39.
45. WOODWARD, K., E. KENDAL, D. VETRIE & S. MALCOLM. 1997. Pelizaeus-Merzbacher disease: defining the duplication by Interphase FISH. Am. J. Hum. Genet. 61: A143.
46. ASOTRA, K. & W.B. MACKLIN. 1993. Protein kinase C activity modulates myelin gene expression in enriched oligodendrocyles. J. Neurosci. Res. 34: 571-588.
47. SISTERMANS, E.A., I.J. DEWIJS, R.F.M. DECOO, et al. 1996 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. 97: 337-339.
48. PHAM-DINH, D., O. BOESPFLUG-TANGUY, C. MIMAULT, et al. 1993. Pelizacus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene. Hum. Mol. Genet. 2: 465-467.
49. KUROSAWA, K., A. IWAKI, S. MIYAKE, et al. 1993. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Mer/bacher disease. Hum. Mol. Genet. 2: 2187-2189.
50. ZEMAN, W., W. DEMYER & H.F. FALLS. 1964. Pelizaeus-Merzbacher disease: A study in nosology. J. Neuropathol. Exp. Neurol. 23: 334-354.
51. AGRAWAL, H.C. & D. AGRAWAL. 1991. Proteolipid protein and DM-20 are synthesized by Schwann cells, present in myelin membrane, but they are not fatty acylated. Neurochem. Res. 16: 855-858.