Peripheral myelin modification in CMT1B correlates with MPZ gene mutations

Neuromuscular Disorders

Volumn 9, Issue 6-7, 1999, Pages 361-367

  Lagueny, A ^a   Latour, P ^b   Vital, A ^c   Rajabally, Y ^a   Le Masson, G ^a   Ferrer, X ^a   Bernard, I ^a   Julien, J ^a   Vital, C ^c   Vandenberghe, A ^b  

^a HAUT LÉVÊQUE HOSPITAL   (France)

^b Lab Biochim HCL Hop l'A   (France)

^c UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

Charcot Marie Tooth disease; Myelin; Po glycoprotein

Indexed keywords

GLYCOPROTEIN P; MYELIN;

ADULT; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOLOGY; HUMAN; MALE; MORPHOLOGY; MYELINATED NERVE; NERVE BIOPSY; NERVE MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYELIN P0 PROTEIN; MYELIN SHEATH; NERVE FIBERS; PEDIGREE; PERIPHERAL NERVES; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RESTRICTION MAPPING;

EID: 0032857452     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00031-0     Document Type: Article

References (42)

1. Dyck P.J., Chance P., Lebo R., Carney J.A. Hereditary motor and sensory neuropthies. Dyck P.J., Thomas P.K., Griffin J.W., Low P.A., Poduslo J.F. 0. 1993;1094 W.B. Saunders, Philadelphia.
2. Raeymaekers P., Timmerman V., Nelis E., et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a): The HMSN Collaborative Research Group. Neuromuscul Disord. 1:1991;93-97.
3. Lupski J.R., de Oca-Luna R.M., Slaugenhaupt S., et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 66:1991;219-232.
4. Nelis E., Van Broeckhoven C., DeJonghe P., et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum. 4:1996;25-33.
5. Patel P.I., Roa B.B., Welcher A.A., et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1:1992;159-165.
6. Timmerman V., Nelis E., Van Hul W., et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1:1992;171-175.
7. Valentijn L.J., Bolhuis P.A., Zorn I., et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1:1992;166-170.
8. Matsunami N., Smith B., Ballard L., et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1:1992;176-179.
9. Hayasaka K., Himoro M., Sato W., et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin Po gene. Nat Genet. 5:1993;31-34.
10. Kulkens T., Bolhuis P.A., Wolterman R.A., et al. Deletion of the serine 34 codon from the major peripheral myelin protien Po gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 5:1993;35-39.
11. Nelis E., Timmerman V., De Jonghe P., et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the Po gene. Hum Genet. 94:1994;653-657.
12. Blanquet-Grossard F., Pham-Dinh D., Dautigny A., et al. Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po. Hum Mutat. 8:1996;185-186.
13. Greenfield S., Brostoff S., Eylar E.H., Morell P. Protein composition of the myelin of peripheral nervous system. J Neurochem. 20:1973;1207-1216.
14. Warner L.E., Hilz M.J., Appel S.H., et al. Clinical phenotypes of different MPZ (Po) mutations may include Charcot-Marie-Tooth type, Dejerine-Sottas and Congenital Hypomyelinations 1B. Neuron. 17:1996;451-460.
15. De Jonghe P Timmerman V. , Nelis E, Martin JJ, Van Broeckhoven C. Charcot-Marie-Tooth disease and related peripheral neuropathies. J Periph Nerv Syst. 2:1997;370-387.
16. Shapiro L., Doyle J.P., Hensley P., Colman D.R., Hendrickson W.A. Crystal structure of the extracellular domain from Po the major structural protein of peripheral nerve myelin. Neuron. 17:1996;435-449.
17. Kirschner D.A., Saävedra R.A. Mutations in demyelinating peripheral neuropathies support molecular model of myelin Po-glycoprotein extracellular domain. J Neurosci Res. 39:1994;63-69.
18. Martini R., Carenini S. Formation and maintenance of the myelin sheath in the peripheral nerve: roles of cell adhesion molecules and the gap junction protein connexin 32. Microsc Res Tech. 41:1998;403-415.
19. Gabreëls-Festen A.A., Hoogendijk J.E., Meijerink P.H., et al. Two divergent types of nerve pathology in patients with different Po mutations in Charcot-Marie-Tooth disease. Neurology. 47:1996;761-765.
20. Pham-Dinh D., Fourbil Y., Blanquet F., et al. The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcgamma receptor genes on human chromosome 1q21.3-q23. Hum Mol Genet. 2:1993;2051-2054.
21. Roy E.P. 3d, Gutmann L., Riggs J.E. Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. Muscle Nerve. 12:1989;52-55.
22. Thomas P.K., King R.H.M., Bradley J.L. Hypertrophic neuropathy: atypical appearances resulting from the combination of type 1 hereditary motor and sensory neuropathy and diabetes mellitus. Neuropathol Appl Neurobiol 23:1997;348-351.
23. Uncini A., Di Muzio A., Chiavaroli F., et al. Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication. Ann Neurol. 35:1994;552-558.
24. Thomas P.K., Marques W., Davis M.B., et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain. 120:1997;465-478.
25. Rouger H., Le Guern E., Gouider R., et al. High frequency of mutations in codon 98 of the peripheral myelin protein Po gene in 20 French CMT1 patients. Am J Hum Genet. 58:1996;638-641.
26. Komiyama A., Ohnishi A., Izawa K., Yamamori S., Ohashi H., Hasegawa O. De novo mutation (Arg98(Cys) of the myelin Po gene and uncompaction of major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B. J Neurol Sci. 149:1997;103-109.
27. Kirschner D.A., Szumonski K., Gabreels-Festen A.A., Hoogendjk J.E., Bolhuis P.A. Inherited demyelinating peripheral neuropathies: relating myelin packing abnormalities to Po molecular defects. J Neurosci Res. 15:1996;502-508.
28. Thomas F.P., Lebo R.V., Rosoklija G., et al. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol. 87:1994;91-97.
29. Bird T.D., Kraft G.H., Lipe H.P., Kenney K.L., Sumi S.M. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study. Ann Neurol. 41:1997;463-469.
30. Tyson J., Ellis D., Fairbrother U., et al. Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome. Brain. 120:1997;47-63.
31. Tachi N., Kozuka N., Ohya K., Chiba S., Sasaki K. Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation. J Neurol Sci. 153:1997;106-109.
32. Raine C.S., Bornstein M.B. Experimental allergic neuritis: ultrastructure of serum-induced myelin aberrations in peripheral nervous system cultures. Lab Invest. 40:1979;423-432.
33. King R.H., Thomas P.K. The occurrence and significance of myelin with unusually large periodicity. Acta Neuropathol. 63:1984;319-329.
34. Tatum A.H. Experimental paraprotein neuropathy. demyelination by passive transfer of human IgM anti-myelin-associated glycoprotein. Ann Neurol 33:1993;502-506.
35. Ohnishi A., Hirano A. Uncompacted myelin lamellae in dysglobulinemic neuropathy. J Neurol Sci. 51:1981;131-140.
36. Vital C., Gherardi R., Vital A., et al. Uncompacted myelin lamellae in polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes syndrome: ultrastructural study of peripheral nerve biopsy from 22 patients. Acta Neuropathol. 87:1994;302-307.
37. Vital C., Vital A., Deminière C., Julien J., Lagueny A., Steck A.J. Myelin modifications in 8 cases of peripheral neuropathy with Waldenström's macroglobulinemia and anti-MAG activity. Ultrastruct Pathol. 21:1997;509-516.
38. Gregory R., Thomas P.K., King R.H., et al. Coexistence of hereditary motor and sensory neuropathy type 1a and IgM paraproteinemic neuropathy. Ann Neurol. 33:1993;649-652.
39. Martini R., Zielasek J., Toyka K.V., Giese K.P., Schachner M. Protein zero (Po)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet. 11:1995;281-286.
40. Shy M.E., Arroyo E., Sladky J., et al. Heterozygous Po knock-out mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy. J Neuropathol Exp Neurol 56:1997;811-821.
41. Dyck P.J., Swanson C.J., Low P.A., Bartleson J.D., Lambert E.H. Prednison e-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc. 57:1982;239-246.
42. Vital A., Vital C., Julien J., Fontan D. Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type 1. Acta Neuropathol. 84:1992;433-436.