Charcot-Marie-Tooth disease (CMT): Distinctive phenotypic and genotypic features in CMT type 2

Journal of the Neurological Sciences

Volumn 184, Issue 1, 2001, Pages 1-9

  Gemignani, Franco ^a   Marbini, Adriana ^a  

^a UNIVERSITY OF PARMA   (Italy)

Author keywords

Axonal neuropathy; Charcot Marie Tooth disease; CMT2; Hereditary motor and sensory neuropathy; Myelin protein zero; Neurofilament light gene; Phenotype genotype correlations

Indexed keywords

MYELIN PROTEIN;

CLASSIFICATION; CORPUS CALLOSUM AGENESIS; DEMYELINATION; GENE MUTATION; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR GENETICS; NERVE FIBER DEGENERATION; NEUROFILAMENT; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; RETINITIS PIGMENTOSA; REVIEW; SENSORY NEUROPATHY;

CHARCOT-MARIE-TOOTH DISEASE; GENOTYPE; HUMANS; PHENOTYPE;

EID: 0035865035     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(00)00497-4     Document Type: Review

References (102)

1. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies
2. Hereditary motor and sensory neuropathies
3. Sur la nevrite interstitielle, hypertrophique et progressive de l'enfance
4. Charcot-Marie-Tooth disease and related peripheral neuropathies
5. Genetically determined neuropathies
6. Localization of Charcot-Marie-Tooth disease type 1a (CMT1a) to chromosome 17p11.2
7. DNA duplication associated with Charcot-Marie-Tooth disease type 1a
8. Charcot-Marie-Tooth neuropathy type 1B is associated with mutation of the myelin P0 gene
9. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
10. Dejerine-Sottas syndrome associated with point mutation in the PMP22 gene
11. A novel homozygous mutation of the myelin P0 gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
12. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas phenotype
13. DNA deletion associated with hereditary neuropathy with liability to pressure palsies
14. Linkage of a locus (CMT4) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
15. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
16. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
17. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
18. Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood
19. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1b, Dejerine-Sottas, and congenital hypomyelination
20. Connexin mutations in X-linked Charcot-Marie-Tooth disease
21. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13
22. 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN II) and distal hereditary motor neuropathy (distal HMN-spinal CMT)
23. The clinical features of hereditary motor and sensory neuropathy types I and II
24. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature
25. Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24
26. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
27. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics
28. Population frequency of inherited neuromuscular diseases - a world survey
29. Prevalence of hereditary motor and sensory neuropathy in Cantabria
30. Genetic and clinical aspects of Charcot-Marie-Tooth's disease
31. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
32. Autosomal recessive forms of hereditary motor and sensory neuropathy
33. Hereditary motor peripheral neuropathy predominantly affecting the hands
34. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
35. A new type of hereditary motor and sensory neuropathy linked to chromosome 3
36. Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood
37. Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?
38. Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity
39. Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene
40. Autosomal dominant muscle cramp syndrome in a Japanese family
41. Charcot-Marie-Tooth disease type 2 with restless legs syndrome
42. Restless legs syndrome: clinicoetiologic correlates
43. A Virginian kinship with hereditary sensory neuropathy, peroneal muscular atrophy and pes cavus
44. Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci
45. Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy
46. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
47. Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy
48. Inherited peroneal muscular atrophy with treatable extrapyramidal features
49. Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia
50. Peroneal muscular atrophy with parkinsonism, ptosis, and congenital strabismus
51. De la valeur des troubles pupillaires en dehors de la syphilis comme signe precoce ou forme frustre d'une affection heredo-degenerative
52. Argyll-Robertson-like pupils in the neural type of Charcot-Marie-Tooth disease
53. Familial myoclonic epilepsy with ataxia and neuropathy with additional features of Friedreich's ataxia and peroneal muscular atrophy
54. Peroneal muscular atrophy and epilepsy with cerebellar ataxia and choreoathetosis in the same family
55. The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy
56. X-linked motor-sensory neuropathy type II with deafness and mental retardation: a new disorder
57. Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers
58. Peroneal muscular atrophy with pyramidal features
59. Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature
60. Familial spastic paraplegia with amyotrophy of the hands
61. Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family
62. Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs
63. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome
64. Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome
65. Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis in two brothers
66. Dell'atrofia muscolare progressiva nevrotica
67. Hereditary motor and sensory neuropathy with optic atrophy. Ultrastructural and morphometric observations on nerve fibers, mitochondria, and dense-cored vesicles
68. Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy
69. Optic atrophy, hearing loss, and peripheral neuropathy
70. Optic atrophy, neural deafness and distal neurogenic amyotrophy
71. Familial optoacoustic nerve degeneration and polyneuropathy
72. Rétinite pigmentaire familiale compliquée d'une amyotrophie neurale
73. Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia
74. A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype
75. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity
76. Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A
77. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
78. Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics
79. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family
80. Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B
81. Mutations in the TRKA-NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
82. Congenital insensitivity to pain with anhidrosis (CPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA-NGF receptor gene, clinical findings, and results of nerve conduction studies
83. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
84. Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1
85. Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family
86. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
87. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene.is associated with a clinically distinct Charcot-Marie-Tooth phenotype
88. Axonal phenotype of the Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
89. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met
90. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
91. A locus for an axonal form of autosomal recessive form of Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3
92. The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15
93. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26
94. Charcot-Marie-Tooth disease type 1. Molecular pathogenesis to gene therapy
95. Effects of PMP22 duplication and deletions on the axonal cytoskeleton
96. Charcot-Marie-Tooth disease type 1a with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study
97. Correlation between weakness and axonal loss in patients with CMT1a
98. Other inherited neuropathies
99. Altered slow axonal transport and regeneration in a myelin-deficient mutant mouse: the trembler as an in vivo model for Schwann cell-axon interactions
100. Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1
101. 5th Workshop of the European CMT Consortium, 69th ENMC International Workshop: therapeutic approaches in CMT neuropathies and related disorders
102. Gene therapy of motor neuron disease using adenoviral vectors for neurotrophic factors