The giant axonal neuropathy - Clinical and histological aspects, differential diagnosis and a new case

Clinical Neuropathology

Volumn 20, Issue 5, 2001, Pages 200-211

  Nafe, R ^a   Trollmann, R ^a   Schlote, W ^a  

^a GOETHE UNIVERSITY   (Germany)

Author keywords

Giant axonal neuropathy; Intermediate filaments; Polyneuropathy

Indexed keywords

CASE REPORT; CELL TYPE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FIBROSIS; GIANT AXON; HISTOGRAM; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MORPHOLOGY; MUSCLE ATROPHY; MUSCLE BIOPSY; MYELIN SHEATH; MYELINATED NERVE; NERVE BIOPSY; NERVE FIBER MEMBRANE; NEUROFILAMENT; NEUROPATHY; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; REVIEW; SCHOOL CHILD; SCHWANN CELL; SKELETAL MUSCLE; SURAL NERVE;

AXONS; BIOPSY; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; ELECTROMYOGRAPHY; FOLLOW-UP STUDIES; GAIT DISORDERS, NEUROLOGIC; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; MALE; MICROSCOPY, ELECTRON; NEUROFIBRILS; NEUROLOGIC EXAMINATION; RETROGRADE DEGENERATION; SCHWANN CELLS; SURAL NERVE;

EID: 0034807757     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (72)

1. Infantile neuroaxonal dystrophy
2. Axonal swellings in human intramuscular nerves
3. Giant axonal neuropathy: A unique case with segmental neurofilamentous masses
4. Infantil neuroaxonal dystrophy and giant axonal neuropathy: Are they related?
5. Infantile neuroaxonal dystrophy or Seitelberger's disease. 11: Peripheral nerve involvement: Electron microscopic study in one case
6. Giant axonal neuropathy
7. Giant axonal neuropathy: Report of a case with normal hair
8. Gingival biopsy in the diagnosis of giant axonal neuropathy
9. Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy
10. Giant axon neuropathy: Intermediary filaments disease with peripheral and central nervous system lesions
11. Giant axonal neuropathy: A second case
12. Focal conduction block in n-hexane polyneuropathy
13. Histological and ultrastructural features of dystrophic isocortical axons in infantile neuroaxonal dystrophy (Seitelberger's disease)
14. NB-acetyl-galactosaminidase deficiency: Schindler's disease
15. Giant axonal neuropathy: Observations on a further patient
16. Clinical progression of giant-axonal neuropathy over a twelve-year period
17. Giant axonal neuropathy: A complete autopsy study
18. Localization of the giant axonal neuropathy gene to chromosome 16q24
19. Giant axonal neuropathy. Endocrinological and histological studies
20. Advanced stage of giant axonal neuropathy
21. Giant axonal neuropathy: Involvement of peripheral nerve, myenteric plexus and extraneuronal area
22. Giant axonal neuropathy in 2 siblings: A generalized disorder of intermediate filaments
23. Neuropathie a axones geants. A propos d'une observation
24. Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred
25. Infantile giant axonal neuropathy
26. Giant axonal neuropathy in a child with insulin-dependent diabetes mellitus
27. Giant axonal neuropathy: A clinical entity affecting the central as well as the peripheral nervous system
28. Giant axonal neuropathy: Normal protein composition of neurofilaments
29. Some histological aspects of amyloid polyneuropathy
30. Infantile chronic peripheral neuropathy with giant axons: Report of a case
31. Familial giant axonal neuropathy
32. Axonal neurofilamentous accumulations: A comparison between human and canine giant axonal neuropathy and 2.5 HD neuropathy
33. Congenital giant axonal neuropathy
34. Giant axonal neuropathy: Visual and oculomotor deficits
35. Giant axonal neuropathy: A conditional mutation affecting cytoskeletal organization
36. Giant axonal neuropathy: A childhood disorder of microfilaments
37. Giant axonal neuropathy. A neuropathological study
38. Giant axonal neuropathy: Clinical, electrophysiologic, and neuropathologic features in two siblings
39. Giant axonal neuropathy with predominant central nervous system manifestation
40. Generalized giant axonal neuropathy: A case with features of Fazio-Londe disease
41. Giant axonal disease: Report of three cases and review of the literature
42. Infantile neuroaxonal dystrophy and giant axonal neuropathy - Overlap diseases of neuronal cytoskeletal elements in childhood?
43. Giant axonal neuropaements with subclinical involvement of the central nervous system: Case report
44. Selective presence of ubiquitin in intracellular inclusions
45. Giant axonal neuropathy: Report of two new familial cases
46. Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy
47. Giant axonal neuropathy: Combined central and peripheral nervous system disease
48. A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments
49. Giant axonal neuropathy: Acceleration of neurofilament transport in optic axons
50. Infantile neuroaxonal dystrophy: Clinical spectrum and diagnostic criteria
51. Giant axonal neuropathy - A third case
52. Carbon disulfide axonopathy. Another experimental model characterized by acceleration of neurofilament transport and distinct changes of axonal size
53. Generalized giant axonal neuropathy: A filament-forming disease of neuronal, endothelial, glial and Schwann cells in a patient without kinky hair
54. The pathogenesis of dying-back polyneuropathies
55. Giant axonal neuropathy: A generalized disorder of cytoplasmic microfilament formation
56. Giant axonal neuropathy: Progressive clinical and radiologic CNS involvement
57. Dysplasie pilaire: Un marqueur précoce de la nenropathie à axones géantes
58. Giant axonal neuropathy: Report on a case with focal fiber loss
59. Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle
60. Degeneration in central and peripheral nervous system produced by pure n-hexane: An experimental study
61. 12 malabsorption
62. Nervous system degeneration produced by the industrial solvent methyl n-butyl ketone
63. Giant axonal neuropathy and leukodystrophy
64. Giant axonal neuropathy: Report of two siblings with endocrinological and histological studies
65. Childhood giant axonal neuropathy: Case report and review of the literature
66. Giant axonal neuropathy GAN: An immunohistochemical and ultrastructural study report of a Latin-American case
67. Giant axonal neuropathy: Correlation of clinical findings with postmortem neuropathology
68. Giant axonal neuropathy: A generalized disorder of intermediate filaments with longitudinal grooves in the hair
69. Hereditary motor sensory neuropathy type II with neurofilament accumulation: New finding or new disorder?
70. Giant axonal neuropathy GAN: A disorder of the central and peripheral nervous system. Clinical, neurophysiological and ultrastructural findings in two patients and review of five previous cases
71. Die riesenaxonneuropathie: Eine kasuistik