Giant axonal neuropathy

{
  "id": "MLC-T-CHM-004872",
  "term": "Giant axonal neuropathy",
  "field": "Chemistry",
  "definition": "A rare inherited neurodegenerative disorder characterized by the formation of abnormally large axons throughout the central and peripheral nervous systems. This condition results from mutations in the GAN gene, which encodes the protein gigaxonin, involved in intermediate filament organization. The accumulation of neurofilaments within axons disrupts nerve function, leading to progressive weakness, sensory loss, and ataxia.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "neurofilament"
  ],
  "references": [
    "PAC, 2015, 87, 841. 'IUPAC Glossary of terms used in neurotoxicology (IUPAC Recommendations 2015)' on page 869 (https://doi.org/10.1515/pac-2015-0103)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/giant-axonal-neuropathy/"
}