Header Logo
Keywords
Last Name
Institution
Announcement

You can now add alternative names! Click here to add other names that you've published under.

Giant Axonal Neuropathy

"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.

expand / collapse MeSH information
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).


expand / collapse publications
This graph shows the total number of publications written about "Giant Axonal Neuropathy" by people in UAMS Profiles by year, and whether "Giant Axonal Neuropathy" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
_