Ultrastructural immunocytochemical abnormalities of peripheral myelin proteins in hereditary sensory-motor neuropathies: 12 cases

Annals of the New York Academy of Sciences

Volumn 883, Issue , 1999, Pages 186-195

  Anani, Thierry ^a   Sindou, Philippe ^a   Richard, Laurence ^a   Diot, Martine ^a   Vallat, Jean Michel ^a  

^a LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMALIA;

MYELIN PROTEIN; PMP22 PROTEIN, HUMAN; PMP22 PROTEIN, MOUSE;

ANIMAL; ARTICLE; CHROMOSOME 17; GENE DELETION; GENE DUPLICATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOELECTRON MICROSCOPY; METHODOLOGY; MOUSE; MOUSE MUTANT; PATHOLOGY; PATHOPHYSIOLOGY; SURAL NERVE; ULTRASTRUCTURE;

ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 17; GENE DELETION; GENE DUPLICATION; HUMANS; MICE; MICE, KNOCKOUT; MICE, NEUROLOGIC MUTANTS; MICROSCOPY, IMMUNOELECTRON; MYELIN PROTEINS; SURAL NERVE;

EID: 0033554356     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08581.x     Document Type: Article

References (32)

1. LUPSKI, J.R., R.M. DE OCA-LUNA & S. SLAUGENHAUPT. 1991. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232.
2. RAEYMAKERS, P., V. TIMMERMAN & E. NELIS. 1991. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathies type 1A. Neuromusc. Disord. 1: 93-97.
3. LEBO, R.V., P.F. CHANCE, P.J. DYCK, et al. 1991. Chromosome 1 Charcot-Marie-Tooth syndrome (CMT 1B) locus in FcgRII gene region. Hum. Genet. 88: 1-12.
4. VALENTIJN, L.J., F. BAAS, R.A. WOLTERMAN, et al. 1992. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat. Genet. 2: 288-291.
5. 0 gene. Nat. Genet. 5: 31-34.
6. 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas and congenital hypomyelination. Neuron 17: 451-460.
7. CHANCE, P.F., M.K. ALDERSON, K.A. LEPPIG, et al. 1993. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151.
8. 0 gene in Charcot-Marie-Tooth disease type 1B, Nat. Genet. 5: 35-39.
9. BONE, L.J., S.M. DESCHENES, R.J. BALICE-GORDON, et al. 1997. Connexin 32 and X-linked Charcot-Marie-Tooth disease. Neurobiol. Dis. 4: 221-230.
10. VALLAT, J.M., P. SINDOU, P.M. PREUX, et al. 1996 . Ultrastructural PMP-22 expression in inherited demyelinating neuropathies. Ann. Neurol. 39: 813-817.
11. DYCK, P.J., P.F. CHANCE, R. LEBO, et al. 1993. Hereditary motor and sensory neuropathies. In Peripheral Neuropathy. P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low, J.F. Podulso, Eds.: 1094-1136. Saunders. Philadelphia..
12. OUVRIER, R. 1996. Correlations between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood. J. Child Neurol, 11: 133-146.
13. BRICE, A., N. RAVISÉ, G. STEVANIN, et al. 1992. Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. J. Med. Genet. 29: 807-812.
14. TOKUYASU, K.T. 1973. A technique for ultracryotomy of cell suspensions and tissues. J. Cell. Biol, 57: 551-565.
15. SCHENONE, A., L. NOBBIO, P. MANDICH, et al. 1997. Underexpression of messenger RNA for peripheral myelin protein-22 in hereditary neuropathy with liability to pressure palsies. Neurology. 48: 445-449.
16. SCHENONE, A., L. NOBBIO, C. CAPONNETTO, et al. 1997. Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies. Ann. Neurol. 42: 866-872.
17. CAU, P. 1990. Stéréologie, autoradiographie et immunocytochimie quantitatives. In Techniques en Microscopie Quantitative. Editions INSERM. Paris, France. 262 pp.
18. YOSHIKAWA, H., T. NISHIMURA, Y. NAKATSUJI, et al. 1994. Elevated expression of messenger RNA for peripheral myelin protein-22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol. 35: 445-450.
19. HANEMANN, C.O., G. STOLL, D. D'URSO, et al. 1994. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J. Neurosci. Res. 37: 654-659.
20. IONASESCU, V.V., C.C. SEARBY, B. IONASESCU, et al. 1997. Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene. Muscle Nerve 20: 1308-1310.
21. BASCLES, L., J. BONNET & B. GARBAY. 1992. Expression of the PMP-22 gene in trembler mutant mice: comparison with the other myelin protein genes. Dev. Neurosci. 14: 336-341.
22. SUTER, U., A.A. WELCHER, T. ÖZCELIK, et al. 1992. Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241-244.
23. 0 glyco-protein and basic protein mRNAs in normal and trembler mutant mice. J. Neurochem. 53: 907-911.
24. CHANCE, P.F., N. ABBAS, N.W. LENSH, et al. 1994. Two autosomal dominant neuropathies result from reciprocal DNA duplication /deletion of a region on chromosome 17. Hum. Mol. Genet. 3: 223-228.
25. GABRIEL, J.M., B. ERNE, D. PAREYSON, et al. 1997. Gene dosage effects in hereditary peripheral neuropathy. Neurology 49: 1635-1640.
26. TYSON, J. S. MALCOLM, P.K. THOMAS, et al. 1996. Deletion of chromosome 17p11.2 in multifocal neuropathies. Ann. Neurol. 39: 180-186.
27. MARIMAN, E.C.M., A.A.W.M. GABREËLS-FESTEN, S.E.C. VAN BEERSUM, et al. 1994. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann. Neurol. 36: 650-655.
28. MEIJERINK, P.H.S., J.E. HOOGENDIJK, A.A.W.M. GABREËLS-FESTEN, et al. 1996. Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies. Ann. Neurol. 40: 672-675.
29. 0 mutations in Charcot-Marie-Tooth disease. Neurology 47: 761-765.
30. THOMAS, F.P., R.V. LEBO, G. ROSOKLIJA, et al. 1994. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol. 87: 91-97.
31. QUARLES, R.H. 1997. Glycoproteins of myelin sheaths. J. Mol. Neurosci. 8: 1-12.
32. ADLKOFER, K., R. MARTINI, A. AGUZZI, et al. 1995. Hypermyelination and demyelinating peripheral neuropathy in PMP-22-deficient mice. Nat. Genet. 11: 274-280.