"Giant Axonal Neuropathy" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
| Descriptor ID |
D056768
|
| MeSH Number(s) |
C10.500.300.490 C10.574.500.495.490 C10.668.829.325 C10.668.829.800.300.490 C16.131.666.300.490 C16.320.400.375.490
|
| Concept/Terms |
Giant Axonal Neuropathy- Giant Axonal Neuropathy
- Axonal Neuropathy, Giant
- Neuropathy, Giant Axonal, Autosomal Recessive
- Giant Axonal Neuropathy 1 (GAN1)
- Neuropathy, Giant Axonal
- Giant Axonal Neuropathy (GAN)
- Axonal Neuropathy, Giant (GAN)
- Neuropathy, Giant Axonal (GAN)
- Giant Axonal Neuropathy 1
|
Below are MeSH descriptors whose meaning is more general than "Giant Axonal Neuropathy".
Below are MeSH descriptors whose meaning is more specific than "Giant Axonal Neuropathy".
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Below are the most recent publications written about "Giant Axonal Neuropathy" by people in Profiles.