Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies

Canadian Journal of Neurological Sciences

Volumn 28, Issue 3, 2001, Pages 199-214

  Benstead, T J ^a   Grant, I A ^a  

^a QUEEN ELIZABETH II HEALTH SCIENCES CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; CONNEXIN 32; GAP JUNCTION PROTEIN; GENE PRODUCT; MYELIN PROTEIN;

CHROMOSOME 17P; CLINICAL FEATURE; DISEASE CLASSIFICATION; ELECTROMYOGRAPHY; GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE BIOPSY; NERVE CONDUCTION; POINT MUTATION; PRIORITY JOURNAL; REVIEW;

EID: 0034875564     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100001347     Document Type: Review

References (159)

1. Genetic and clinical aspects of Charcot-Marie-Tooth's disease
2. Prevalence of hereditary motor and sensory neuropathy in Cantabria
3. Charcot-Marie-Tooth disease in northern Sweden: An epidemiological and clinical study
4. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT 1A and HNPP
5. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
6. Clinical heterogeneity of autosomal recessive spastic paraplegias: Analysis of 106 patients in 46 families
7. Early onset cerebellar ataxia with retained tendon reflexes: Foot deformity in a first grade family member
8. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations
9. Extreme slowing of nerve conduction in peroneal muscular atrophy
10. The clinical features of hereditary motor and sensory neuropathy types I and II
11. Intensive evaluation of referred unclassified neuropathies yields improved diagnosis
12. Autosomal recessive forms of hereditary motor and sensory neuropathy
13. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1
14. Linkage of dominantly inherited Charcot-Marie-Tooth neuropathy to the Duffy locus in an Indiana family
15. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17
16. Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I)
17. X-linked dominant hereditary motor and sensory neuropathy
18. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
19. The peripheral myelin protein 22 and epithelial membrane protein family
20. 0, the major structural protein of peripheral nerve myelin
21. Connexin32 is a myelin-related protein in the PNS and CNS
22. Effects of PMP22 duplication and deletions on the axonal cytoskeleton
23. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
24. Regulation of myelin-specific gene expression. Relevance to CMT 1
25. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
26. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
27. Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies
28. Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation
29. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
30. A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies
31. Ultrastructural PMP22 expression in inherited demyelinating neuropathies
32. Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies
33. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
34. Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases
35. Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease
36. 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
37. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
38. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
39. The phenotypic manifestations of chromosome 17p11.2 duplication
40. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin
41. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A
42. Histologic and teased-fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons
43. Hereditary motor and sensory neuropathy type 1: Clinical and neurographical features of the 17p duplication subtype
44. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy
45. Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1
46. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
47. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: A longitudinal clinical and electrophysiologic study
48. Penetrance of the hereditary motor and sensory neuropathy Ia mutation: Assessment by nerve conduction studies
49. Differentiating acquired from familial segmental demyelinating neuropathies by EMG
50. The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies
51. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1
52. Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis
53. Conduction block and dispersion in hereditary motor and sensory neuropathy
54. Conduction block in hereditary motor and sensory neuropathy type I
55. Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1
56. Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)
57. Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves
58. The hypertrophic 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
59. Charcot-Marie-Tooth disease type 1A: Morphological phenotype of the 17p duplication versus PMP22 point mutations
60. Histologic measurements and fine structure of biopsied sural nerve: Normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy
61. Hereditary motor and sensory neuropathies
62. Human nerve pathology caused by different mutational mechanisms of the PMP22 gene
63. Thin axons relative to myelin spiral length in hereditary motor and sensory neuropathy, type I
64. Decreased axon caliber and neurofilaments in hereditary motor and sensory neuropathy, type I
65. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B
66. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: A 20-year study
67. The Roussy-Levy family: From the original description to the gene
68. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease
69. Role of myelin PO protein as a homophilic adhesion molecule
70. Sept cas d'une maladie familiale particulière: Troubles de la marche, pieds bots et aréflexie tendineuse généralisée, avec, accessoirement, légére maladresse des mains
71. X-linked dominant Charcot-Marie-Tooth neuropathy: Clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1)
72. Tremor as a feature of chronic relapsing and dysgammaglobulinemic polyneuropathies. Incidence and management
73. Physiological tremor analysis of patients with anti-myelin-associated glycoprotein associated neuropathy and tremor
74. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13
75. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie- Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity
76. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
77. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family
78. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
79. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
80. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
81. A distinct pattern of trophic factor expression in myelin-deficient nerves of Trembler mice: Implications for trophic support by Schwann cells
82. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
83. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
84. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
85. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature
86. Intermediate nerve conduction velocities define X-linked Charcot-Marie- Tooth neuropathy families
87. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 Cx32 mutations in 35 families
88. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiologic study
89. Genotype/phenotype correlations in X-linked dominant Charcot-Marie- Tooth disease
90. Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family
91. Hereditary motor sensory neuropathy type II with neurofilament accumulation: New finding or new disorder?
92. Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance
93. Connexin mutations in X-linked Charcot-Marie-Tooth disease
94. The first de novo mutation of the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease
95. X-linked Charcot-Marie-Tooth disease: Molecular analysis of interfamilial variability
96. Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy
97. Connexin32-null mice develop demyelinating peripheral neuropathy
98. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene
99. Clinical and pathological observations in men lacking the gap junction protein connexin 32
100. Electrodiagnostic findings in CMTX: A disorder of the Schwann cell and peripheral nerve myelin
101. Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings
102. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease
103. Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT 1A) and connexin32 mutations (CMTX1)
104. Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts
105. Recurrent peripheral-nerve palsies in a family
106. Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects
107. DNA deletion associated with hereditary neuropathy with liability to pressure palsies
108. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies
109. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland
110. Deletions of chromosome 17p11.2 in multifocal neuropathies
111. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion
112. Recurrent familial brachial plexopathy as the only clinical expression of neuropathy with susceptibility to pressure
113. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion
114. Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy - Two genetically distinct disorders
115. Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to chromosome 17q25
116. Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25
117. Recurrent polyradiculoneuropathy with the 17p11.2 deletion
118. Fulminant case of hereditary neuropathy with liability to pressure palsy
119. Long-lasting conduction block in hereditary neuropathy with liability to pressure palsies
120. Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication
121. Tomaculous neuropathy: A clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2
122. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies
123. Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study
124. Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion
125. The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy)
126. Uncompacted inner myelin lamellae in inherited tendency to pressure palsy
127. Conduction and histopathology of the sural nerve in hereditary neuropathy with liability to pressure palsies
128. 0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
129. Identification of a de novo insertional mutation in PO in a patient with a Dejerine-Sottas syndrome (DSS) phenotype
130. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
131. Dejerine-Sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible "hot spot" on Ser72
132. Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy
133. 0 gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
134. The electrophysiologic profile of Dejerine-Sottas disease (HMSN III)
135. The status of HMSN type III
136. Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy
137. Electron-microscopic heterogeneity of onion-bulb neuropathies of the Dejerine-Sottas type. Two patients in one family with the variant described by Lyon (1969)
138. A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies
139. Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life
140. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
141. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
142. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
143. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
144. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
145. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene
146. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3
147. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3
148. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family
149. Congenital hypo- and hypermyelination neuropathy. Two cases
150. Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding
151. Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths
152. Autosomal recessive hypermyelinating neuropathy
153. Hereditary motor and sensory neuropathy with myelin outfolding: Clinical, genetic and neuropathological study of three cases
154. Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding in two siblings
155. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease
156. Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex
157. A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths
158. The human neuregulin-2 (NRG2) gene: Cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q