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Giant Axonal Neuropathy MeSH Descriptor Data 2022


MeSH Heading
Giant Axonal Neuropathy
Tree 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
Unique ID
D056768
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056768
Scope Note
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).
Entry Term(s)
Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant Axonal
Neuropathy, Giant Axonal, Autosomal Recessive
Previous Indexing
Peripheral Nervous System Diseases (1972-2009)
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2020/05/27
Giant Axonal Neuropathy Preferred
Giant Axonal Neuropathy 1 Narrower
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