Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq

Neurology

Volumn 49, Issue 3, 1997, Pages 824-832

  Lazzarini, Alice ^a   Schwarz, K O ^a   Jiang, S ^a   Stenroos, E S ^a   Lehner, T ^b   Johnson, W G ^a  

^a ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

ARTICLE; CASE REPORT; CHROMOSOME XQ; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MUTATION; PEDIGREE; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PRIORITY JOURNAL; TANDEM REPEAT;

EID: 0030869978     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.3.824     Document Type: Article

References (47)

1. Pelizaeus F. Über eine eigentümliche Form spastischer Lähmung mit Zerebralerscheinungen auf hereditäre Grundlage (multiple Sklerose). Arch Psychiatr Nervenkr 1885;16:698-710.
2. Merzbacher L. Eine eigenartige familiäre Erkrankungsform. Zentralbl Gesamte Neurol Psychiatr 1910;3:1-138.
3. 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.
4. Trofatter JA, Dlouhy SR, DeMeyer W, Conneally PM, Hodes ME. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA 1989; 86:9427-9430.
5. Gencic S, Abuelo D, Ambler M, Hudson LD. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelm metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 1989;45:435-442.
6. Boison D, Stoffel W. Myelin-deficient rat: a point mutation in exon III (A → C, Thr75 → Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death. EMBO 1989;8:3295-3302.
7. Hodes ME, Pratt VM, Dlouhy SR. Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 1993;15:383-394.
8. Ellis D, Malcolm S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994;6:333-334.
9. Harding B, Ellis D, Malcolm S. A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. Neuropathol Appl Neurobiol 1995;21:111-115.
10. Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol 1995;38:610-617.
11. Griffiths IR, Schneider A, Anderson J, Nave K-A. Transgenic and natural mouse models of proteolipid protein (PLP)-related dysmyelination and demyelination. Brain Pathol 1995;5:275-281.
12. Boespflug-Tanguy O, Mimault C, Melki J, et al. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. Am J Hum Genet 1994;55:461-467.
13. Hudson LD, Berndt JA, Puckett C, Kozak CA, Lazzarini RA. Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse. Proc Natl Acad Sci USA 1987; 84:1454-1458.
14. Saugier-Verber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-262.
15. Zoghbi HY, Ballabio A. Pelizaeus-Merzbacher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases. Vol 7. New York: McGraw Hill, 1995:4581-4585.
16. Seitelberger F. Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology: leucodystrophies and polydystrophies. New York: American Elsevier Publishing, 1970:150-201.
17. Boulloche J, Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1986;1:233-239.
18. Renier WO, Gabreëls FJM, Hustinx TWJ, et al. Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins. Acta Neuropathol 1981;54:11-17.
19. Doll R, Natowicz MR, Schiffmann R, Smith FI. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;51: 161-169.
20. Watanabe I, Patel V, Goebel HH, Siakotos AN, Zeman W, DeMyer W. Early lesion of Pelizaeus-Merzbacher disease: electron microscopic and biochemical study. J Neuropathol Exp Neurol 1973;32:313-333.
21. Wilkus RJ, Farrell DF. Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease. Neurology 1976;26:1042-1045.
22. Online Mendelian Inheritance in Man OT. The Human Genome Data Base Project. World Wide Web URL: http://gdbwww. gdb.org/omim/docs/omimtop.html. 1997.
23. Zeman W, DeMyer W, Falls HF. Pelizaeus-Merzbacher disease: a study in nosology. J Neuropathol Exp Neurol 1964;23: 334-354.
24. Pratt VM, Keifer JR, Lähdetie 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.
25. Pratt VM. Molecular analysis of the PLP gene in Pelizaeus-Merzbacher disease. PhD dissertation. Indiana University, 1994.
26. Trofatter JA, Pratt VM, Dlouhy SR, Hodes ME. AhaII polymorphism in human X-linked proteolipid protein gene (PLP). Nucleic Acids Res 1991;19:6057.
27. Ploughman LM, Boehnke M. Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 1989;44:543-551.
28. Lazzarini A, Stenroos ES, Lehner T, et al. Short tandem repeat polymorphism linkage studies in a new family with X-linked mental retardation (MRX20). Am J Med Genet 1995; 57:552-557.
29. Weber JL, Wong C. Mutation of human short tandem repeats. Hum Mol Genet 1993;2:1123-1128.
30. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446.
31. Cottingham JRW, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993;53:252-263.
32. Schaffer AA, Gupta SK, Shriram K, Cottingham JRW. Avoiding recomputation in linkage analysis. Hum Hered 1994;44: 225-237.
33. Wang LH, Collins A, Lawrence S, Keats BJ, Morton NE. Integration of gene maps: chromosome X. Genomics 1994;22:590-604.
34. Fain PR, Kort EN, Chance PF, et al. A 2D crossover-based map of the human X chromosome as a model for map integration. Nat Genet 1995;9:261-266.
35. Nelson DL, Ballabio A, Cremers F, Monaco AP, Schlessinger D. Report of the sixth international workshop on X chromosome mapping 1995. Cytogenet Cell Genet 1995;71:307-342.
36. Barker DF, Fain PR. Definition and mapping of STSs at STR and RFLP loci in Xp11-Xq22. Genomics 1993;18:712-716.
37. Terwilliger JD, Ott J. Handbook of human genetic linkage. Baltimore: Johns Hopkins University Press, 1994:7-8.
38. Bang CD, Dolan TA. Chromosome preparation from cultured peripheral blood cells. In: Dracopoli NC, Haines JL, Korf BR, ed. Current protocols in human genetics. New York: John Wiley & Sons, 1995:4.1.1-4.1.4.
39. Schreck RR, Distèche CM. Chromosome banding techniques. In: Dracopoli NC, Haines JL, Korf BR, ed. Current protocols in human genetics. New York: John Wiley & Sons. 1995:4.2.1-4.2.7.
40. Kagawa T, Ikenaka K, Inoue Y, et al. Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron 1994;13:427-442.
41. Readhead C, Schneider A, Griffiths I, Nave K-A. Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 1994;12:583-595.
42. Inoue K, Osaka H, Sugiyama N, et al. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 1996;59:32-39.
43. Norman RM, Tingey AH. Sudanophil leucodystrophy and Pelizaeus-Merzbacher disease. In: Folch-Pi, Bauer H, eds. Brain lipids and lipoproteins and the leucodystrophies. Amsterdam: Elsevier, 1963:169-186.
44. Gerstl B, Malamud N, Hayman RB, Bond PR. Morphological and neurochemical study of Pelizaeus-Merzbacher disease. J Neurol Neurosurg Psychiatry 1965;28:540-547.
45. Johnson WG, Rapin I. Progressive genetic metabolic diseases. In: Rudolph AM, Hoffman JIE, Rudolph CD, eds. Rudolph's pediatrics. 20th ed. Stamford: Appleton & Lange, 1996:2019-2025.
46. Sparaco M, Bonilla E, DiMauro S, Powers JM. Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol 1993;52:1-10.
47. Hodes ME, Dlouhy SR. The proteolipid protein gene: double, double, . . . and trouble. Am J Hum Genet 1996;59:12-15.