Mechanisms of disease: Inherited demyelinating neuropathies - From basic to clinical research

Nature Clinical Practice Neurology

Volumn 3, Issue 8, 2007, Pages 453-464

  Nave, Klaus Armin ^a   Sereda, Michael W ^a,b   Ehrenreich, Hannelore ^a,b  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b MAX PLANCK INSTITUTE OF EXPERIMENTAL MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGESTAGEN; ASCORBIC ACID; CONNEXIN 32; MYELIN; NEUROTROPHIN; NEUROTROPHIN 3; ONAPRISTONE; PERIPHERAL MYELIN PROTEIN 22; PLACEBO; PROTEIN CMT1A; PROTEIN CMT1B; PROTEIN CMTX; RECOMBINANT ERYTHROPOIETIN; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

CLINICAL TRIAL; DEMYELINATING DISEASE; DISEASE MODEL; DRUG ACTIVITY; DRUG MEGADOSE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MITOCHONDRION; MUSCLE WEAKNESS; MYELINATION; NERVE FIBER; NEUROPROTECTION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SCHWANN CELL; SENSORY DYSFUNCTION; TRANSCRIPTION REGULATION; TRANSGENIC ANIMAL;

ANIMALS; BIOMEDICAL RESEARCH; CHARCOT-MARIE-TOOTH DISEASE; DEMYELINATING DISEASES; HUMANS; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 34547631080     PISSN: 1745834X     EISSN: 17458358     Source Type: Journal    
DOI: 10.1038/ncpneuro0583     Document Type: Review

References (108)

1. Shy ME et al. (2005) Principles of classifications, clinical syndromes. In Peripheral Neuropathy, edn 4 (2 vols) 1623-1658 (Eds Dyck PJ and Thomas PK) Philadelphia: Elsevier Saunders
2. Züchner S and Vance JM (2006) Mechanisms of disease: A molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2: 45-53
3. Killian JM et al. (1996) Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 19: 74-78
4. Birouk N et al. (1997) Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication: Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120: 813-823
5. Krajewski K et al. (2000) Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123 1516-1527
6. Lewis RA et al. (2003) Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease. Muscle Nerve 28: 161-167
7. Lawson VH et al. (2003) Assessment of axonal loss in Charcot-Marie-Tooth neuropathies. Exp Neurol 184: 753-757
8. Keller MP and Chance PF (1999) Inherited neuropathies: From gene to disease. Brain Pathol 9: 327-341
9. Martini R and Toyka KV (2004) Immune-mediated components of hereditary demyelinating neuropathies: Lessons from animal models and patients. Lancet Neurol 3: 457-465
10. Kuhlenbaumer G et al. (2002) Clinical features and molecular genetics of hereditary peripheral neuropathies. J Neurol 249 1629-1650
11. Shy ME (2004) Charcot-Marie-Tooth disease: An update. Curr Opin Neurol 17: 579-585
12. Suter U and Scherer SS (2003) Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 4: 714-726
13. Meyer zu Horste GM and Nave KA (2006) Animal models of inherited neuropathies. Curr Opin Neurol 19: 464-473
14. Timmerman V et al. (2006) Molecular genetics, biology, and therapy for inherited peripheral neuropathies. Neuromolecular Med 8: 1-2
15. Berger P et al. (2006) Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia 54: 243-257
16. Szigeti K et al. (2006) Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management. Genet Med 8: 86-92
17. Inherited Peripheral Neuropathies Mutation Database [http://www.molgen.ua.ac.be/CMTMutations/]
18. Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6: 98-118
19. Boerkoel CF et al. (2002) Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation. Ann Neurol 51: 190-201
20. Lupski JR et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232
21. Raeymaekers P et al. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1: 93-97
22. Sereda MW et al. (2003) Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 9: 1533-1537
23. Passage E et al. (2004) Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 10: 396-401
24. Pareyson D et al. (2006) A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]. Pharmacol Res 54: 436-441
25. Kaku DA et al. (1993) Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 43: 1806-1808
26. Patel PI et al. (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1: 159-165
27. Timmerman V et al. (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1: 171-175
28. Valentijn LJ et al. (1992) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1: 166-170
29. Pentao L et al. (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2: 292-300
30. Reiter LT et al. (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12: 288-297
31. Chance PF et al. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151
32. Li J et al. (2004) Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 29 205-210
33. Suter U et al. (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241-244
34. Roa BB et al. (1993) Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329: 96-101
35. Sereda MW et al. (1996) A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16: 1049-1060
36. Huxley C et al. (1996) Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet 5: 563-569
37. Adlkofer K et al. (1995) Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet 11: 274-280
38. D'Urso D et al. (1999) Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin. J Neurosci 19: 3396-3403
39. Notterpek L et al. (1999) PMP22 accumulation in aggresomes: implications for CMT1A pathology. Neurobiol Dis 6: 450-460
40. Fortun J et al. (2006) Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression. Neurobiol Dis 22: 153-164
41. Johnston JA et al. (1998) Aggresomes: A cellular response to misfolded proteins. J Cell Biol 143: 1883-1898
42. Lemke G and Axel R (1985) Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 40: 501-508
43. Filbin MT et al. (1990) Role of myelin P0 protein as a homophilic adhesion molecule. Nature 344: 871-872
44. Giese KP et al. (1992) Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 71: 565-576
45. Martini R et al. (1995) Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 11: 281-286
46. Wrabetz L et al. (2000) P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J Cell Biol 148: 1021-1034
47. Yin X et al. (2000) Schwann cell myelination requires timely and precise targeting of P(0) protein. J Cell Biol 148: 1009-1020
48. Wrabetz L et al. (2006) Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice. J Neurosci 26: 2358-2368
49. Maurer M et al. (2002) Role of immune cells in animal models for inherited neuropathies: Facts and visions. J Anat 200: 405-414
50. Ip C et al. (2006) Role of immune cells in animal models for inherited peripheral neuropathies. Neuromolecular Med 8: 175-190
51. Marrosu MG et al. (1998) Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 50: 1397-1401
52. Senderek J et al. (2000) Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: Two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. Brain Pathol 10: 235-248
53. Hanemann CO et al. (2001) Axon damage in CMT due to mutation in myelin protein P0. Neuromuscul Disord 11: 753-756
54. Li J et al. (2006) Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J Comp Neurol 498: 252-265
55. Lappe-Siefke C et al. (2003) Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. Nat Genet 33: 366-374
56. Hahn AF et al. (1990) X-linked dominant hereditary motor and sensory neuropathy. Brain 113: 1511-1525
57. Silander K et al. (1998) Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum Mutat 12: 59-68
58. Numakura C et al. (2002) Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/ GJB1 mutations. Hum Mutat 20: 392-398
59. Bergoffen J et al. (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262: 2039-2042
60. Nicholson GA et al. (1998) Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: Ten novel mutations. Neurology 51: 1412-1416
61. Harding AE and Thomas PK (1980) Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 17: 329-336
62. Harding AE and Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103: 259-280
63. Hahn AF et al. (1999) Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease. Ann N Y Acad Sci 883: 366-382
64. Nicholson G and Corbett A (1996) Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. J Neurol Neurosurg Psychiatry 61: 43-46
65. Senderek J et al. (1999) X-linked dominant Charcot-Marie-Tooth neuropathy: Clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations. J Neurol Sci 167: 90-101
66. Hanemann CO et al. (2003) Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol 60: 605-609
67. Kleopa KA and Scherer SS (2006) Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neuromolecular Med 8: 107-122
68. Nelles E et al. (1996) Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. Proc Natl Acad Sci USA 93: 9565-9570
69. Anzini P et al. (1997) Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci 17: 4545-4551
70. Scherer SS et al. (1998) Connexin32-null mice develop demyelinating peripheral neuropathy. Glia 24: 8-20
71. Kobsar I et al. (2005) Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A. J Neurosci Res 81: 857-864
72. Scherer SS et al. (1995) Connexin32 is a myelin-related protein in the PNS and CNS. J Neurosci 15: 8281-8294
73. Balice-Gordon RJ et al. (1998) Functional gap junctions in the Schwann cell myelin sheath. J Cell Biol 142: 1095-1104
74. Yum SW et al. (2002) Diverse trafficking abnormalities of connexin32 mutants causing CMTX. Neurobiol Dis 11: 43-52
75. Dubourg O et al. (2006) Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med 8: 75-86
76. Saifi GM et al. (2005) SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat 25: 372-383
77. Senderek J et al. (2003) Mutations in a gene encoding a novel SH3/ TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 73: 1106-1119
78. Sherman DL et al. (2001) Specific disruption of a Schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 30: 677-687
79. Takashima H (2006) Molecular genetics of inherited neuropathies [Japanese]. Rinsho Shinkeigaku 46: 1-18
80. Bolino A et al. (2000) Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. Genomics 63: 271-278
81. Berger P et al. (2002) Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 11: 1569-79
82. Senderek J et al. (2003) Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 12: 349-356
83. Baxter RV et al. (2002) Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30: 21-22
84. Cuesta A et al. (2002) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30: 22-25
85. Niemann A et al. (2005) Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: New implications for Charcot-Marie-Tooth disease. J Cell Biol 170 1067-1078
86. Züchner S et al. (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36: 449-451
87. Warner LE et al. (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18: 382-384
88. Joseph LJ et al. (1988) Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure. Proc Natl Acad Sci USA 85: 7164-7168
89. Leblanc SE et al. (2005) Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination. J Neurochem 93: 737-748
90. Topilko P et al. (1994) Krox-20 controls myelination in the peripheral nervous system. Nature 371: 796-799
91. Inoue K et al. (2002) Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: Phenotypes linked by SOX10 mutation. Ann Neurol 52: 836-842
92. LeBlanc SE et al. (2006) Direct regulation of myelin protein zero expression by the Egr2 transactivator. J Biol Chem 281: 5453-5460
93. Jordanova A et al. (2006) Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 38: 197-202
94. Antonellis A et al. (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 72: 1293-1299
95. Schiffmann R and van der Knaap MS (2004) The latest on leukodystrophies. Curr Opin Neurol 17: 187-192
96. Schiffmann R and Elroy-Stein O (2006) Childhood ataxia with CNS hypomyelination/vanishing white matter disease - a common leukodystrophy caused by abnormal control of protein synthesis. Mol Genet Metab 88: 7-15
97. Chen S et al. (2003) Disruption of ErbB receptor signaling in adult non-myelinating Schwann cells causes progressive sensory loss. Nat Neurosci 6: 1186-1193
98. Meyer Zu Horste G et al. (2007) Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann Neurol 61: 61-72
99. Griffiths I et al. (1998) Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 280: 1610-1613
100. Chen H and Chan DC (2006) Critical dependence of neurons on mitochondrial dynamics. Curr Opin Cell Biol 18: 453-459
101. Pop-Busui R et al. (2006) Diabetic neuropathy and oxidative stress. Diabetes Metab Res Rev 22: 257-273
102. Shy ME (2006) Therapeutic strategies for the inherited neuropathies. Neuromolecular Med 8: 255-278
103. Shy ME et al. (2005) Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64: 1209-1214
104. Sahenk Z et al. (2005) NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology 65: 681-689
105. Hassan K et al. (2003) Effect of erythropoietin therapy on polyneuropathy in predialytic patients. J Nephrol 16: 121-125
106. Keswani SC et al. (2004) Erythropoietin is neuroprotective in models of HIV sensory neuropathy. Neurosci Lett 371: 102-105
107. Sugawa M et al. (2002) Effects of erythropoietin on glial cell development; oligodendrocyte maturation and astrocyte proliferation. Neurosci Res 44: 391-403
108. Scarlato M et al. (2005) Polyneuropathy in POEMS syndrome: Role of angiogenic factors in the pathogenesis. Brain 128: 1911-1920