Diseases

Giant Axonal Neuropathy

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).

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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).

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

8 entry terms
  • Giant Axonal Neuropathy (GAN)
  • Neuropathy, Giant Axonal
  • Axonal Neuropathy, Giant
  • Axonal Neuropathy, Giant (GAN)
  • Neuropathy, Giant Axonal (GAN)
  • Giant Axonal Neuropathy 1
  • Giant Axonal Neuropathy 1 (GAN1)
  • Neuropathy, Giant Axonal, Autosomal Recessive

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2010

MeSH Record

Previous Indexing

  • Peripheral Nervous System Diseases (1972-2009)

MeSH Hierarchy

Tree Numbers

  1. C10w.500w.300w.490w
  2. C10w.574w.500.495w.490w
  3. C10w.668w.829w.325w
  4. C10w.668w.829w.800w.300w.490w
  5. C16w.131w.666w.300w.490w
  6. C16w.320w.400.375w.490w

AMA Style

References

  1. National Library of Medicine. Giant Axonal Neuropathy. Medical Subject Headings (MeSH). 2026. Unique ID D056768. http://id.nlm.nih.gov/mesh/2026/D056768
  2. Giant Axonal Neuropathy. In: Wikipedia. https://en.wikipedia.org/wiki/Giant_axonal_neuropathy
  3. Giant Axonal Neuropathy. In: Wikidata. https://www.wikidata.org/wiki/Q3338682