"Interestingly, "neuropathy" classically refers to a disease of the PNS only. As GAN also affects the CNS, "giant axonal neurodegeneration" has been proposed as a more appropriate name 4."
"Approximately 50 affected families have been reported in the literature; the prevalence is unknown. Of note, giant axonal neuropathy is often reported in the context of parental consanguinity 1-3."
"Mutations in both alleles of the giaxonin gene on chromosome 16 cause large accumulations of neurofilaments, axonal distention ("giant" axons), and degeneration of the myelin sheath 7. The exact mechanism of pathogenesis is unclear; however, giaxonin is thought to have a role in neurofilament degradation as part of an E3 ubiquitin ligase complex 7."
"Children typically presents in infancy (often age 3 years) with motor sensory neuropathy in the absence of prodromal signs or symptoms. The CNS is affected later in disease progression, which is demonstrated by cerebellar ataxia, cognitive dysfunction, epilepsy and pyramidal insufficiency 4-6. Of note, kinky hair is often reported."