Infantile neuroaxonal dystrophy and giant axonal neuropathy - Overlap diseases of neuronal cytoskeletal elements in childhood?

Clinical Neuropathology

Volumn 19, Issue 5, 2000, Pages 221-229

  Mahadevan, A ^a   Santosh, V ^a   Gayatri, N ^a   Ratnavalli, E ^a   NandaGopal, R ^a   Vasanth, A ^a   Roy, A K ^a   Shankar, S K ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

Giant axonal neuropathy; Infantile neuroaxonal dystrophy; Intermediate filaments; Neurofilaments; Ultrastructure

Indexed keywords

ARTICLE; CASE REPORT; CELL ORGANELLE; CELL ULTRASTRUCTURE; CHILD; CHILDHOOD DISEASE; CYTOSKELETON; DIFFERENTIAL DIAGNOSIS; ELECTRON MICROSCOPY; FEMALE; GIANT AXON; HISTOLOGY; HUMAN; HUMAN TISSUE; INTERMEDIATE FILAMENT; MALE; MITOCHONDRION; NERVE BIOPSY; NEUROAXONAL DYSTROPHY; NEUROFILAMENT; NEUROPATHY; PRIORITY JOURNAL; SURAL NERVE;

BIOPSY; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INTERMEDIATE FILAMENTS; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON; NERVE FIBERS, MYELINATED; NEUROAXONAL DYSTROPHIES; NEURODEGENERATIVE DISEASES; ORGANELLES; SURAL NERVE;

EID: 0033821994     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (43)

1. Giant axonal neuropathy: A unique case with segmental neurofilamentous masses
2. Giant axonal neuropathy
3. Infantile neuroaxonal dystrophy and giant axonal neuropathy: Are they related?
4. Giant axonal neuropathy: Report of a case with normal hair
5. Melanocytic involvement in giant axonal neuropathy
6. Gingival biopsy in the diagnosis of giant axonal neuropathy
7. Giant axonal neuropathy: A clinically and morphologically distinct disease
8. NB acetyl galactosaminidase deficiency: Schindler's disease
9. Giant axonal neuropathy: Abnormalities of the axonal cytoskeleton in giant axonal neuropathy
10. Giant axonal neuropathy: Observations on a further patient
11. Clinical progression of giant axonal neuropathy over a twelve-year period
12. Peripheral nerve biopsy as an aid to diagnosis in infantile neuroaxonal dystrophy
13. Hereditary and motor sensory neuropathies
14. Localization of the giant axonopathy gene to chromosome 16q24
15. Giant axonal neuropathy: Involvement of peripheral nerve, myenteric plexus, and extra-neuronal areas
16. Giant axonal neuropathy: A clinical entity affecting the central as well as the peripheral nervous system
17. Giant axonal neuropathy: Normal protein composition of neurofilaments
18. Infantile peripheral neuropathy with giant axons: Report of a case
19. Familial giant axonal neuropathy
20. Congenital giant axonal neuropathy
21. Giant axonal neuropathy: Visual and occulomotor deficits
22. Giant axonal neuropathy: A childhood disorder of microfilaments
23. Giant axonal neuropathy: A neuropathological study
24. Giant axonal neuropathy with predominant CNS manifestations
25. Generalized giant axonal neuropathy B: A case with features of Fazio-Londe disease
26. Giant axonal neuropathy: Central abnormalities demonstrated by evoked potentials
27. Giant axonal neuropathy: Combined central and peripheral nervous system disease
28. Giant axonal neuropathy: A third case
29. Generalized giant axonal neuropathy: A filament-forming disease of neuronal, endothelial, glial, and Schwann cells in a patient without kinky hair
30. Giant axonal neuropathy: Intermediate filament aggregates in cultured skin fibroblasts
31. Giant axonal neuropathy: A generalized disorder of cytoplasmic microfilament formation
32. Giant axonal neuropathy: Progressive clinical and radiologic CNS involvement
33. Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin-type intermediate filaments in skeletal muscle
34. Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency
35. Eine unbekannte Form von infantiler Lipoidspeicher-Krankheit des Gehirns
36. Giant axonal neuropathy: A report of two siblings with endocrinological and histological studies
37. Dithiothreitol and D-penicillamine increase perinuclear vimentin filament aggregates in giant axonal neuropathy fibroblasts
38. Childhood giant axonal neuropathy: Case report and review of literature
39. Giant axonal neuropathy: Studies with sulphydryl donor compounds
40. Giant axonal neuropathy (GAN): An immunohistochemical and ultrastructural study of a Latin American case
41. Giant axonal neuropathy: Correlation of clinical findings with postmortem neuropathology
42. Giant axonal neuropathy: A generalized disorder of intermediate filaments with longitudinal grooves in the hair
43. Giant axonal neuropathy: A case report