Animal models of inherited neuropathies

Current Opinion in Neurology

Volumn 19, Issue 5, 2006, Pages 464-473

  Zu Hörste, Gerd Meyer ^a   Nave, Klaus Armin ^a  

^a MAX PLANCK INSTITUTE OF EXPERIMENTAL MEDICINE   (Germany)

Author keywords

Animal model; Axonal loss; Charcot Marie Tooth disease; Charcot Marie Tooth therapy; Hereditary neuropathy

Indexed keywords

ANTIGESTAGEN; ASCORBIC ACID; NEUROTROPHIN 3; ONAPRISTONE; PERIPHERAL MYELIN PROTEIN 22;

DEMYELINATION; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GLIA CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFLAMMATION; MYELINATION; NERVE FIBER; NEUROPROTECTION; NONHUMAN; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; REMYELINIZATION; REVIEW; SCHWANN CELL; XENOGRAFT;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; CHARCOT-MARIE-TOOTH DISEASE; DISEASE MODELS, ANIMAL; GENE EXPRESSION; HUMANS; MICE; MODELS, BIOLOGICAL; MYELIN PROTEINS; RATS;

EID: 33748689294     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.wco.0000245369.44199.27     Document Type: Review

References (128)

1. Emery AE. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1991; 1:19-29.
2. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974; 6:98-118.
3. Shy ME, Lupski JR, Chance PF, et al. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. 4th ed. vol. 2. Amsterdam: Elsevier Saunders; 2005. pp. 1623-1658.
4. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I: Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968; 18:603-618.
5. Martini R, Zielasek J, Toyka KV, et al. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 1995; 11:281-286.
6. Sereda MW, Griffiths I, Puhlhofer A, et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 1996; 16:1049-1060.
7. Suter U, Welcher AA, Ozcelik T, et al. Trembler mouse carries a point mutation in a myelin gene. Nature 1992; 356:241-244.
8. Robertson A, Huxley C. Transgenic models of inherited neuropathy. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. 4th ed. vol. 2. Amsterdam: Elsevier Saunders; 2005. pp. 1561-1583. A careful review of animal models of inherited neuropathies caused by mutations in myelin proteins.
9. Wrabetz L, Feltri ML, Suter U. Models of Charcot-Marie-Tooth disease. In: Lazzarini RA, editor. Myelin biology and disorders. Vol. 2. Amsterdam: Elsevier Academy; 2004. pp. 1143-1168.
10. Sereda MW, Nave KA. Animal models of Charcot-Marie-Tooth disease type 1A (CMT1A). Neuromol Med 2006; 8:205-215.
11. Timmermann V, Lupski JR, De Jonghe P, editors. Molecular genetics, biology, and therapy for inherited peripheral neuropathies. Neuromol Med 2006; 8:1-278.
12. Passage E, Norreel JC, Noack-Fraissignes P, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 2004; 10:396-401.
13. Sahenk Z, Nagaraja HN, McCracken BS, et al. NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology 2005; 65:681-689. In this study neurotrophin-3 promoted regeneration of sensory axons in CMT mouse models. The concurrent clinical trial constitutes the first description of a successful treatment of CMT1A patients.
14. Sereda MW, Meyer zu Horste G, Suter U, et al. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 2003; 9:1533-1537.
15. Huxley C, Passage E, Manson A, et al. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet 1996; 5:563-569.
16. Huxley C, Passage E, Robertson AM, et al. Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Hum Mol Genet 1998; 7:449-458.
17. Magyar JP, Martini R, Ruelicke T, et al. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J Neurosci 1996; 16:5351-5360.
18. Robertson AM, Perea J, McGuigan A, et al. Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A. J Anat 2002; 200:377-390.
19. Suter U, Moskow JJ, Welcher AA, et al. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci U S A 1992; 89:4382-4386.
20. Suh JG, Ichihara N, Saigoh K, et al. An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the Schwann cells in the new Trembler mutant mice. Neuroscience 1997; 79:735-744.
21. Isaacs AM, Davies KE, Hunter AJ, et al. Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy. Hum Mol Genet 2000; 9:1865-1871.
22. Adlkofer K, Martini R, Aguzzi A, et al. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet 1995; 11:274-280.
23. Adlkofer K, Frei R, Neuberg DH, et al. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J Neurosci 1997; 17:4662-4671.
24. Giese KP, Martini R, Lemke G, et al. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 1992; 71:565-576.
25. Wrabetz L, Feltri ML, Quattrini A, et al. P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J Cell Biol 2000; 148:1021-1034.
26. Runker AE, Kobsar I, Fink T, et al. Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder. J Cell Biol 2004; 165:565-573.
27. Wrabetz L, D'Antonio M, Pennuto M, et al. Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice. J Neurosci 2006; 26:2358-2368. Report of new mouse lines expressing mutant and wild-type MPZ resembling CMT1B.
28. Anzini P, Neuberg DH, Schachner M, et al. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci 1997; 17:4545-4551.
29. Scherer SS, Bone LJ, Deschenes SM, et al. The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease. Novartis Found Symp 1999; 219:175-185; discussion 185-187.
30. Schneider-Maunoury S, Topilko P, Seitandou T, et al. Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain. Cell 1993; 75:1199-1214.
31. Nagarajan R, Le N, Mahoney H, et al. Deciphering peripheral nerve myelination by using Schwann cell expression profiling. Proc Natl Acad Sci U S A 2002; 99:8998-9003.
32. Gillespie CS, Sherman DL, Fleetwood-Walker SM, et al. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 2000; 26:523-531.
33. Bolino A, Bolis A, Previtali SC, et al. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol 2004; 167:711-721.
34. Bonneick S, Boentert M, Berger P, et al. An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 2005; 14:3685-3695. Mice with a null mutation of MTMR2 develop a progressive neuropathy with myelin outfoldings.
35. Zhao C, Takita J, Tanaka Y, et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 2001; 105:587-597.
36. Lee MK, Marszalek JR, Cleveland DW. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 1994; 13:975-988.
37. De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 2002; 70:726-736.
38. Szigeti K, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med 2006; 8:86-92.
39. Patel PI, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1:159-165.
40. Valentijn LJ, Bolhuis PA, Zorn I, et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1:166-170.
41. 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 1992; 1:176-179.
42. 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 1992; 1:171-175.
43. Yoshikawa H, Nishimura T, Nakatsuji Y, et al. 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 1994; 35:445-450.
44. Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 2003; 4:714-726.
45. Grandis M, Leandri M, Vigo T, et al. Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease. Exp Neurol 2004; 190:213-223.
46. Perea J, Robertson A, Tolmachova T, et al. Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. Hum Mol Genet 2001; 10:1007-1018.
47. Niemann S, Sereda MW, Suter U, et al. Uncoupling of myelin assembly and Schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22. J Neurosci 2000; 20:4120-4128.
48. Robaglia-Schlupp A, Pizant J, Norreel JC, et al. PMP22 overexpression causes dysmyelination in mice. Brain 2002; 125:2213-2221.
49. Roa BB, Dyck PJ, Marks HG, et al. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993; 5:269-273.
50. Lupski JR, Chance PF. Hereditary motor and sensory neuropathies involving altered dosage or mutation of PMP22: the CMT1A duplication and HNPP deletion. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. 4th ed. vol. 2. Amsterdam: Elsevier Saunders; 2005. pp. 1659-1680.
51. Notterpek L, Shooter EM, Snipes GJ. Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy. J Neurosci 1997; 17:4190-4200.
52. Ryan MC, Shooter EM, Notterpek L. Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations. Neurobiol Dis 2002; 10:109-118.
53. Fortun J, Go JC, Li J, et al. Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression. Neurobiol Dis 2006; 22:153-164. This paper supports overloading of the intracellular protein degradation machinery by overexpressed PMP22 as one possible cause for Schwann cell pathology in CMT1A.
54. Notterpek L, Ryan MC, Tobler AR, Shooter EM. PMP22 accumulation in aggresomes: implications for CMT1A pathology. Neurobiol Dis 1999; 6:450-460.
55. Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromol Med 2006; 8:217-242. An excellent review illustrating recent advances regarding pathomechanisms in inherited neuropathies. The authors dissect the respective contribution of Schwann cells and axons in CMT pathology.
56. Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993; 72:143-151.
57. Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci 2006; 242:55-66.
58. Pareyson D, Menichella D, Botti S, et al. Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease. Ann N Y Acad Sci 1999; 883:477-480.
59. Warner LE, Hilz MJ, Appel SH, et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996; 17:451-460.
60. Yin X, Kidd GJ, Wrabetz L, et al. Schwann cell myelination requires timely and precise targeting of P(0) protein. J Cell Biol 2000; 148:1009-1020.
61. Previtali SC, Quattrini A, Fasolini M, et al. Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice. J Cell Biol 2000; 151:1035-1046.
62. Bolino A, Muglia M, Conforti FL, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 2000; 25:17-19.
63. Houlden H, King RH, Wood NW, et al. Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. Brain 2001; 124:907-915.
64. Berger P, Bonneick S, Willi S, et al. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 2002; 11:1569-1579.
65. Michell RH, Heath VL, Lemmon MA, Dove SK. Phosphatidylinositol 3, 5-bisphosphate: metabolism and cellular functions. Trends Biochem Sci 2006; 31:52-63.
66. Bolis A, Coviello S, Bussini S, et al. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. J Neurosci 2005; 25:8567-8577. In contrast to previous assumptions, inactivation of MTMR2 in Schwann cells but not in motoneurons causes a CMT4B1-like phenotype. This provides the basis for further analysis of MTMR2 function in peripheral myelination.
67. Robinson FL, Dixon JE. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. J Biol Chem 2005; 280:31699-31707.
68. Azzedine H, Bolino A, Taieb T, et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 2003; 72: 1141-1153.
69. Conforti FL, Muglia M, Mazzei R, et al. A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). Neurology 2004; 63:1327-1328.
70. Senderek J, Bergmann C, Weber S, et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 2003; 12:349-356.
71. Nelles E, Butzler C, Jung D, et al. Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. Proc Natl Acad Sci U S A 1996; 93:9565-9570.
72. Scherer SS, Xu YT, Nelles E, et al. Connexin32-null mice develop demyelinating peripheral neuropathy. Glia 1998; 24:8-20.
73. Fischbeck KH, Abel A, Lin GS, Scherer SS. X-linked Charcot-Marie-Tooth disease and connexin32. Ann N Y Acad Sci 1999; 883:36-41.
74. Scherer SS, Xu YT, Messing A, et al. Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J Neurosci 2005; 25:1550-1559.
75. Topilko P, Schneider-Maunoury S, Levi G, et al. Krox-20 controls myelination in the peripheral nervous system. Nature 1994; 371:796-799.
76. Nagarajan R, Svaren J, Le N, et al. EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 2001; 30:355-368.
77. Vandenberghe N, Upadhyaya M, Gatignol A, et al. Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. J Med Genet 2002; 39:e81.
78. Gillespie CS, Sherman DL, Blair GE, Brophy PJ. Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment. Neuron 1994; 12:497-508.
79. Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ. Specific disruption of a Schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 2001; 30:677-687.
80. Boerkoel CF, Takashima H, Stankiewicz P, et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 2001; 68:325-333.
81. Guilbot A, Williams A, Ravise N, et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet 2001; 10:415-421.
82. Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 2005; 65:197-204.
83. Reilly MM. Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! Neurology 2005; 65:186-187.
84. Chen H, Detmer SA, Ewald AJ, et al. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol 2003; 160:189-200.
85. Neuspiel M, Zunino R, Gangaraju S, et al. Activated mitofusin 2 signals mitochondrial fusion, interferes with Bax activation, and reduces susceptibility to radical induced depolarization. J Biol Chem 2005; 280:25060-25070.
86. Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004; 36:449-451.
87. Koenig HL, Schumacher M, Ferzaz B, et al. Progesterone synthesis and myelin formation by Schwann cells. Science 1995; 268:1500-1503.
88. Schumacher M, Guennoun R, Mercier G, et al. Progesterone synthesis and myelin formation in peripheral nerves. Brain Res Brain Res Rev 2001; 37:343-359.
89. Desarnaud F, Do Thi AN, Brown AM, et al. Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells. J Neurochem 1998; 71:1765-1768.
90. Melcangi RC, Magnaghi V, Cavarretta I, et al. Progesterone derivatives are able to influence peripheral myelin protein 22 and P0 gene expression: possible mechanisms of action. J Neurosci Res 1999; 56:349-357.
91. Fuhrmann U, Hess-Stumpp H, Cleve A, et al. Synthesis and biological activity of a novel, highly potent progesterone receptor antagonist. J Med Chem 2000; 43:5010-5016.
92. Podratz JL, Rodriguez E, Windebank AJ. Role of the extracellular matrix in myelination of peripheral nerve. Glia 2001; 35:35-40.
93. Podratz JL, Rodriguez EH, Windebank AJ. Antioxidants are necessary for myelination of dorsal root ganglion neurons, in vitro. Glia 2004; 45:54-58.
94. Meier C, Parmantier E, Brennan A, et al. Developing Schwann cells acquire the ability to survive without axons by establishing an autocrine circuit involving insulin-like growth factor, neurotrophin-3, and platelet-derived growth factor-BB. J Neurosci 1999; 19:3847-3859.
95. Nobbio L, Gherardi G, Vigo T, et al. Axonal damage and demyelination in long-term dorsal root ganglia cultures from a rat model of Charcot-Marie-Tooth type 1A disease. Eur J Neurosci 2006; 23:1445-1452. This original work demonstrates the suitability of myelinating Schwann cell-dorsal root ganglion cocultures to represent CMT-like defects possibly allowing rapid therapy screening.
96. Vigo T, Nobbio L, Hummelen PV, et al. Experimental Charcot-Marie-Tooth type 1A: a cDNA microarrays analysis. Mol Cell Neurosci 2005; 28:703-714.
97. Ten Asbroek AL, Verhamme C, van Groenigen M, et al. Expression profiling of sciatic nerve in a Charcot-Marie-Tooth disease type 1a mouse model. J Neurosci Res 2005; 79:825-835.
98. Sendtner M, Kreutzberg GW, Thoenen H. Ciliary neurotrophic factor prevents the degeneration of motor neurons after axotomy. Nature 1990; 345:440-441.
99. Ito Y, Yamamoto M, Mitsuma N, et al. Expression of mRNAs for ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), interleukin-6 (IL-6), and their receptors (CNTFR alpha, LIFR beta, IL-6R alpha, and gp130) in human peripheral neuropathies. Neurochem Res 2001; 26:51-58.
100. Giambonini-Brugnoli G, Buchstaller J, Sommer L, et al. Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation. Neurobiol Dis 2005; 18:656-668. This microarray study describes different cellular responses to altered PMP22 gene dosage and PMP22 point mutations. This may help to identify new therapeutic approaches and disease-modifying factors in CMT.
101. Berghoff M, Samsam M, Muller M, et al. Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: enhanced axonal degeneration following disruption of the RAG-1 gene. Mol Cell Neurosci 2005; 28:118-127.
102. Kobsar I, Hasenpusch-Theil K, Wessig C, et al. Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A. J Neurosci Res 2005; 81:857-864. This work suggests that macrophages modify disease progression in the most common CMT subtype 1A.
103. Schmid CD, Stienekemeier M, Oehen S, et al. Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance. J Neurosci 2000; 20:729-735.
104. Maurer M, Muller M, Kobsar I, et al. Origin of pathogenic macrophages and endoneurial fibroblast-like cells in an animal model of inherited neuropathy. Mol Cell Neurosci 2003; 23:351-359.
105. Kobsar I, Berghoff M, Samsam M, et al. Preserved myelin integrity and reduced axonopathy in connexin32-deficient mice lacking the recombination activating gene-1. Brain 2003; 126:804-813.
106. Maurer M, Schmid CD, Bootz F, et al. Bone marrow transfer from wild-type mice reverts the beneficial effect of genetically mediated immune deficiency in myelin mutants. Mol Cell Neurosci 2001; 17:1094-1101.
107. Kobsar I, Oetke C, Kroner A, et al. Attenuated demyelination in the absence of the macrophage-restricted adhesion molecule sialoadhesin (Siglec-1) in mice heterozygously deficient in P0. Mol Cell Neurosci 2006; 31:685-691.
108. Carenini S, Maurer M, Werner A, et al. The role of macrophages in demyelinating peripheral nervous system of mice heterozygously deficient in p0. J Cell Biol 2001; 152:301-308.
109. Martini R, Toyka KV. Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients. Lancet Neurol 2004; 3:457-465.
110. Berciano J, Garcia A, Calleja J, Combarros O. Clinico- electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication. Neuromuscul Disord 2000; 10:419-424.
111. Krajewski K, Lewis RA, Fuerst DR, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000; 123 (Pt 7):1516-1527.
112. Krajewski K, Turansky C, Lewis R, et al. Correlation between weakness and axonal loss in patients with CMT1A. Ann N Y Acad Sci 1999; 883:490-492.
113. De Jonghe P, Mersivanova I, Nelis E, et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 2001; 49:245-249.
114. Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000; 67:37-46.
115. Jordanova A, De Jonghe P, Boerkoel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003; 126:590-597.
116. Yoshihara T, Yamamoto M, Hattori N, et al. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J Peripher Nerv Syst 2002; 7:221-224.
117. de Waegh SM, Lee VM, Brady ST. Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 1992; 68:451-463.
118. Griffiths I, Klugmann M, Anderson T, et al. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 1998; 280:1610-1613.
119. Sahenk Z, Chen L, Mendell JR. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 1999; 45:16-24.
120. Frei R, Motzing S, Kinkelin I, et al. Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice. J Neurosci 1999; 19:6058-6067.
121. Sancho S, Magyar JP, Aguzzi A, Suter U. Distal axonopathy in peripheral nerves of PMP22-mutant mice. Brain 1999; 122 (Pt 8):1563-1577.
122. Killian JM, Tiwari PS, Jacobson S, et al. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 1996; 19:74-78.
123. Birouk N, Gouider R, Le Guern E, et al. Charcot-Marie-Tooth disease type 1A with 17p112 duplication: clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997; 120 (Pt 5):813-823.
124. Shy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127:371-384.
125. Wrabetz L, Feltri ML, Kleopa KA, Scherer SS. Inherited neuropathies: clinical, genetic, and biological features. In: Lazzarini RA, editor. Myelin biology and disorders. Vol. 2. Amsterdam: Elsevier Academy; 2004. pp. 905-951.
126. Scherer SS, Fischbeck KH. Is CMTX an axonopathy? Neurology 1999; 52:432-433.
127. Chen S, Rio C, Ji RR, et al. Disruption of ErbB receptor signaling in adult nonmyelinating Schwann cells causes progressive sensory loss. Nat Neurosci 2003; 6:1186-1193.
128. Michailov GV, Sereda MW, Brinkmann BG, et al. Axonal neuregulin-1 regulates myelin sheath thickness. Science 2004; 304:700-703.