Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero

Acta Neuropathologica

Volumn 100, Issue 3, 2000, Pages 299-304

  Fabrizi, Gian Maria ^a   Taioli, Federica ^a   Cavallaro, Tiziana ^a   Rigatelli, Federica ^a   Simonati, Alessandro ^a   Mariani, Giuseppe ^b   Perrone, Patrizia ^b   Rizzuto, Nicolo' ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b Hospital of Legnano   (Italy)

Author keywords

Calf hypertrophy; Charcot Marie Tooth neuropathy type 1B Myelin protein zero (P0); Outfolding; Tomacula

Indexed keywords

LEUCINE; MYELIN; MYELIN PROTEIN; SERINE;

ADULT; ARTICLE; CASE REPORT; DEMYELINATING NEUROPATHY; DISEASE SEVERITY; GASTROCNEMIUS MUSCLE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MUSCLE ATROPHY; MUSCLE HYPERTROPHY; MYELIN SHEATH; NERVE BIOPSY; ONSET AGE; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; PROTEIN FOLDING; REMYELINIZATION; SURAL NERVE;

EID: 0033924377     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004019900175     Document Type: Article

References (28)

1. Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Qualtrone A, Devoto M (1996) Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 5: 1051-1054
2. De Jonghe P, Timmerman V, Nelis E, Martin J-J, Van Broeckhoven C (1997) Charcot-Marie-Tooth disease and related peripheral neuropathies. J Periph Nerv Syst 2: 370-387
3. De Visser M, Hoogendijk JE, Ongerboer De Visser BW, Verbeeten BJ (1990) Calf enlargement in hereditary motor and sensory neuropathy. Muscle Nerve 13: 40-46
4. 0 interacts with neeatively charged phospholipids bilayers. J Biol Chem 269: 10764-10770
5. 0 extracellular domain causes a Dejerine-Sottas syndrome. J Neurol Neurosurg Psychiatry 66: 386-389
6. Fabrizi GM, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N (1999) Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. Neurology 53: 846-851
7. 0 protein as a homophilic adhesion molecule. Nature 344: 871-872
8. Gabreëls-Festen AAWM, Joosten EMG, Gabreëls FJM, Stegeman DF, Vos AJM, Busch HFM (1990) Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain 113: 1629-1643
9. 0 mutations in Charcot-Marie-Tooth disease. Neurology 47: 761-765
10. Gambardella A, Muglia M, Quattrone A (1997) Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome. Brain 120: 2113-2115
11. Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A (1998) Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology 50: 799-801
12. Haites NE, Nelis E, Van Broeckhoven C (1998) Third workshop of the European CMT consortium: 54th ENMC international workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord 8: 426-431
13. 0 gene in Charcot-Marie-Tooth neuropathy type 1B. Hum Mol Genet 2: 1369-1372
14. James R, Bellone E, Nelis E, Mandich P, Schenone A, Mancardi G, Van Broeckhoven C, Abruzzese M, Ajmar F (1995) Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outtolding. Neurosci Lett 194: 136-138
15. 0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B. J Neurol Sci 149: 103-109
16. Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G, Boucherat M, Van Broeckhoven C, Vandenberghe A (1995) Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. Hum Mutat 6: 50-54
17. Martini R, Schachner M (1997) Molecular bases of myelin formation as revealed by investigations on mice deficient in glial cell surface molecules. Glia 19: 298-310
18. Meijerink PHS, Hoogendijk JE, Gabreëls-Festen AAWM, Zorn I, Veldman H, Baas F, De Visser M, Bolhuis PA (1996) Clinical distinct codon 69 mutations in major protein zero in demyelinating neuropathies. Ann Neurol 40: 672-675
19. Nakagawa M, Suehara M, Saito A, Takashima H, Umehera F, Saito M, Kanzato N, Matsuzaki T, Takenaga S, Sakoda S, Izumo S, Osame M (1999) A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. Neurology 52: 1271-1275
20. Ohnishi A, Murai Y, Ikeda M, Fujita T, Furuya H, Kuroiwa Y (1989) Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding. Muscle Nerve 12: 568-575
21. Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O, Valentino P, Van Broeckhoven C, Zappia C (1996) Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology 46: 1318-1324
22. 0, the major structural protein of peripheral myelin. Neuron 17: 435-449
23. Tachi N, Kokuza N, Ohya K, Chiba S, Sasaki K (1997) Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin zero gene mutation. J Neurol Sci 153: 106-109
24. Thomas FP, Lebo RV, Rosoklija G, Ding X-S, Lovelace RE, Latov N, Hays AP (1994) Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol 87: 91-97
25. Thomas PK, King RHM, Small JR, Robertson AM (1996) The pathology of Charcot-Marie-Tooth disease and related disorders. Neuropathol Appl Neurobiol 22: 269-284
26. Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (1999) Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 52: 1827-1832
27. Umehara E, Takenaga S, Nakagawa M, Takahashi K, Izumo S, Matsumoro K, Sakota S, Nishimura T, Yoshikawa H, Osame M (1993) Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathol 86: 602-608
28. Uncini A, Di Muzio A, Chiavaroli F, Gambi D, Sabatelli M, Archidiacono N, Antonacci R, Marzella R, Rocchi M (1994) Hereditary motor and sensory neuropathy with calf hypertrophy is associated with the 17p11.2 duplication. Ann Neurol 35: 552-558