Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

Neurology

Volumn 47, Issue 3, 1996, Pages 761-765

  Gabreels Festen A A W M ^a   Hoogendijk, J E ^a   Meijerink, P H S ^b   Gabreels F J M ^c   Bolhuis, P A ^d   Van Beersum, S ^e   Kulkens, T ^a   Nelis, E ^d   Jennekens, F G I ^a   De Visser, M ^a   Van Engelen, B G M ^b   Van Broeckhoven, C ^e   Mariman, E C M ^c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^e UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 17P; CLINICAL ARTICLE; DEMYELINATING DISEASE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE BIOPSY; PHENOTYPE; POLYNEUROPATHY; PRIORITY JOURNAL; SURAL NERVE;

EID: 0041114444     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.3.761     Document Type: Article

References (43)

1. Patel PI, Lupski JR. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 1994;10:128-133.
2. Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-Tooth neuropathy type IB is associated with mutations of the myelin PO gene. Nat Genet 1993;5:31-34.
3. 0 gene in Charcot-Marie-Tooth disease type IB. Nat Genet 1993;5:35-39.
4. Hayasaka K, Takada G, lonasescu W. Mutation of the myelin PO gene in Charcot-Marie-Tooth neuropathy type IB. Hum Mol Genet 1993;2:1369-1372.
5. 0 gene in Charcot-Marie-Tooth neuropathy type 1. Biochem Biophys Res Commun 1993;194: 1317-1322.
6. 0 gene in a pedigree of Charcot-Marie-Tooth neuropathy type I. Biochem Mol Biol Int 1993;31:169-173.
7. Su Y, Brooks DG, Li L, et al. Myelin protein zero gene mutated in Charcot-Marie-Tooth type IB patients. Proc Natl Acad Sei USA 1993;90:10856-10860.
8. 0 gene. Hum Genet 1994;94:653-657.
9. Ohnishi A, Li LY, Fukushima Y, et al. Molecular genetic studies of Japanese families. Presented at the Meeting of the Peripheral Nerve Society, Antalya, Turkey, 1995.
10. 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 1993;5: 266-268.
11. 0 in a patient with a Dejerine-Sottas syndrome (DSS) phenotype. Hum Mol Genet 1994;3:1701-1702.
12. Thomas FP, Lebo RV, Rosoklija G, et al. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol (Berl) 1994;87:91-97.
13. Tachi N, Ishikawa Y, Minami R. Two cases of congenital hypomyelination neuropathy. Brain Dev 1984;6:560-565.
14. Ouvrier RA, McLeod JG, Conchin TE. The hypertrophie forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain 1987;110:121-148.
15. Gabreëls-Festen A, Hoogendijk J, Mariman E, et al. CMT1B: heterogeneous nerve morphology [abstract]. Aktuel Neurol 1995;22(suppl):2.
16. Valentijn LJ. The molecular basis of Charcot-Marie-Tooth disease type 1A. PhD Thesis, University of Amsterdam, The Netherlands 1995.
17. Pham-Dinh D, Fourbil Y, Blanquet F, et al. The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc-gamma receptor genes on human chromosome Iq21.3-q23. Hum Mol Genet 1993;2:2051-2054.
18. Nicholson GA, Valentijn LJ, Cherryson AK, et al. A frameshift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 1994;6:263-266.
19. Gabreëls-Festen AAWM, Joosten EMG, Gabreëls FJM, Stegeman DF, Vos AJM, Busch HFM. Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain 1990;113:1629-1643.
20. Gabreëls-Festen AAWM, Gabreëls FJM, Jennekens FGI, Joosten EMG, Janssen-van Kempen TW. Autosomal recessive form of motor and sensory neuropathy type I. Neurology 1992; 42:1755-1762.
21. Gabreëls-Festen AAWM, Gabreëls FJM, Hoogendijk JE, Bolhuis PA, Jongen PJH, Vingerhoets HM. Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria. Acta Neuropathol (Berl) 1993;86:630-635.
22. Hayasaka K, Nanao K, Sato W, Takada G, Miura M, Uyemura K. Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin. Biochem Biophys Res Commun 1991;180:515-518.
23. Fannon AM, Sherman DL, Ilyina-gragerova G, Brophy PJ, Friedrich VL, Colman DR. Novel E-cadherin mediated adhesion in peripheral nerve; Schwann cell architecture is stabilized by autotypic adherens junctions. J Cell Biol 1995;129: 189-202.
24. Dyck PJ. Inherited neuronal degeneration and atrophy affect-ing peripheral motor, sensory, and autonomie neurons. In: Dyck PJ, Thomas PK, Lambert EH, eds. Peripheral neuropathy. Vol 2. Philadelphia: Saunders 1975:825-867.
25. Lemke G, Lamar E, Patterson J. Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron 1988;1: 73-83.
26. D'Urso D, Brophy PJ, Staugaitis SM, et al. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 1990;2:449-460.
27. 0 protein as a homophilic adhesion molecule. Nature 1990;344:871-872.
28. 0 confers both adhesion and neunte outgrowth-promoting properties. J Neurosci Res 1990; 27:286-297.
29. 0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 1992;71:565-576.
30. Kirschner DA, Ganser AL. Compact myelin exists in the absence of basic protein in the shiverer mutant mouse. Nature 1980;283:207-210.
31. Martini R, Mohajeri MH, Kasper S, Giese KP, Schachner M. Mice doubly deficient in the genes for PO and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin. J Neurosci 1995;15:4488-4495.
32. 0 protein is essential for its adhesion. J Neurochem 1994;63:367-370.
33. Ohnishi A, Hirano A. Uncompacted myelin lamellae in dysglobulinemic neuropathy. J Neurol Sei 1981;51:131-140.
34. Vital C, Brechenmacher C, Reiffers J, et al. Uncompacted myelin lamellae in two cases of peripheral neuropathy. Acta Neuropathol (Berl) 1983;60:252-256.
35. King RHM, Thomas PK. The occurrence and significance of myelin with unusually large periodicity. Acta Neuropathol (Berl) 1984;63:319-329.
36. Lamarche J, Vital C. Carcinomatous neuropathy: ultrastructural study in ten cases. Ann Pathol 1987;7:98-105.
37. Vital C, Gherardi R, Vital A, et al. Uncompacted myelin lamellae in polyneuropathy, organomegaly, endocrinopathy, Mprotein and skin changes syndrome. Ultrastructural study of peripheral nerve biopsy from 22 patients. Acta Neuropathol (Berl) 1994;87:302-307.
38. Asbury AK, Johnson PC. In: Bennington JL, ed. Pathology of peripheral nerve. Philadelphia: Saunders, 1978:132-135.
39. Jacobs JM, Gregory R. Uncompacted lamellae as a feature of tomaculous neuropathy. Acta Neuropathol (Berl) 1991;83:87-91.
40. Yoshikawa H, Dyck PJ. Uncompacted inner myelin lamellae in inherited tendency to pressure palsies. Neuropathol Exp Neurol 1991;50:649-657.
41. Mariman ECM, Gabreëls-Festen AAWM, van Beersum SEC, et al. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol 1994;36:650-655.
42. Filbin MT, Tennekoon GI. Myelin PO-protein, more than just a structural protein? Bioessays 1992;14:541-547.
43. Martini R, Zielasek J, Toyka KV, Giese KP, Schachner M. Protein zero (PO)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 1995;ll:281-286.