Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease

Brain Research Reviews

Volumn 36, Issue 2-3, 2001, Pages 213-221

  Young, Peter ^a,b   Suter, Ueli ^a  

^a ETH ZURICH   (Switzerland)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Animal model; Charcot Marie Tooth disease; Mutation; Therapy

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; CORTICOSTEROID; INTERFERON; MYELIN PROTEIN; NEUROTROPHIC FACTOR; NEUROTROPHIN 3; VIRUS VECTOR;

ADENOVIRUS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DISEASE MODEL; GENE DOSAGE; GENE THERAPY; GENE TRANSFER; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOMODULATION; MONOGENIC DISORDER; MOUSE STRAIN; NERVE FIBER DEGENERATION; NERVOUS SYSTEM; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROPHYLAXIS; REVIEW;

ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; DISEASE MODELS, ANIMAL; HUMANS; MUTATION; MYELIN PROTEINS; MYELIN SHEATH; PERIPHERAL NERVES;

EID: 0034752315     PISSN: 01650173     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-0173(01)00097-2     Document Type: Review

References (90)

1. A controlled trial of recombinant methionyl human BDNF in ALS
2. Mutations in connexin 32: The molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease
3. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy
4. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice
5. Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele
6. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32
7. Connexin mutations in X-linked Charcot-Marie-Tooth disease
8. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiologic study
9. Periaxin mutations cause recessive Dejerine-Sottas neuropathy
10. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
11. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
12. Exposure at the cell surface is required for Gas3/PMP22 to regulate both cell death and cell spreading: Implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases
13. Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22
14. Connections with connexins: The molecular basis of direct intercellular signaling
15. Localization and functional roles of PMP22 in peripheral nerves of P0-deficient mice
16. DNA deletion associated with hereditary neuropathy with liability to pressure palsies
17. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies
18. PMP22 carrying the Trembler or Trembler-J mutation is intracellularly retained in myelinating Schwann cells
19. Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin
20. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
21. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
22. Hereditary motor and sensory neuropathies
23. Prednisone-responsive hereditary motor and sensory neuropathy
24. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: Its relation to the demyelinating peripheral neuropathy CMT1A
25. Human nerve pathology caused by different mutational mechanisms of the PMP22 gene
26. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease
27. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
28. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice
29. Effective gene transfer of lacZ and P0 into Schwann cells of P0-deficient mice
30. Gene therapy of murine motor neuron disease using adenoviral vectors for neurotrophic factors
31. Adenovirus-mediated transfer of the neurotrophin-3 gene into skeletal muscle of pmn mice: Therapeutic effects and mechanisms of action
32. Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A
33. Improved culture methods to expand Schwann cells with altered growth behaviour from CMT1A patients
34. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
35. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA
36. Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice
37. Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene
38. Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: De novo dominant point mutation of the PMP22 gene
39. Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene
40. Identification of two new PMP22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
41. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
42. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
43. A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
44. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease
45. DNA duplication associated with Charcot-Marie-Tooth disease type 1A
46. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage
47. Animal models for inherited peripheral neuropathies
48. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
49. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A
50. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
51. Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
52. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies
53. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies
54. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies
55. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
56. Altered molecular architecture of peripheral nerves in mice lacking the peripheral myelin protein 22 or connexin32
57. Connexin32 in hereditary neuropathies
58. Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22
59. PMP22 accumulation in aggresomes: Implications for CMT1A pathology
60. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
61. SOX10 mutations in patients with Waardenburg-Hirschsprung disease
62. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
63. Distal axonopathy in peripheral nerves of PMP22-mutant mice
64. Connexin32-null mice develop demyelinating peripheral neuropathy
65. Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance
66. Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain
67. A transgenic rat model of Charcot-Marie-Tooth disease
68. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin
69. Genetic and clinical aspects of Charcot-Marie-Tooth's disease
70. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse
71. Peripheral myelin protein 22: Facts and hypotheses
72. Trembler mouse carries a point mutation in a myelin gene
73. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
74. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
75. Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction
76. Krox-20 controls myelination in the peripheral nervous system
77. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
78. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
79. Ultrastructural PMP22 expression in inherited demyelinating neuropathies
80. Clinical toxicity of the interferons
81. Myopathies due to drugs, toxins, and nutritional deficiencies
82. Hereditary peripheral neuropathies: Clinical forms, genetics, and molecular mechanisms
83. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
84. Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case
85. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies
86. Inherited recurrent focal neuropathies
87. Mutation analysis in Charcot-Marie-Tooth disease type 1: Point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity
88. Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
89. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth
90. Krox-20 controls SCIP expression, cell cycle exit and susceptibility to apoptosis in developing myelinating Schwann cells