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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 08-07-2009
Symbol GAN
Location 16q23.2
Name giant axonal neuropathy
Corresponding gene GAN
related resource Mutation Database of Inherited Peripheral Neuropathies
Other symbol(s) GAN1
Main clinical features
  • generalized intermediate filament disorganization
  • characterized by the development of severe childhood sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system, with mental retardation, kinky or curly hair, skeletal abnormalities, severe course with a life expectancy of less than 30 years, but milder forms are observed
  • cytopathologically, giant axons with derangements of cytoskeletal components; massive disorganization of intermediate filaments (IFs) both in neurons and many non-neuronal cells (Cleveland 2009)
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name gigaxonin (GAN)