Giant axonal neuropathy (GAN)
Evidence-based neurology checklist on giant axonal neuropathy (gan): Genetics This is caused by mutations in the GAN gene The gene encodes gigatoxin The mutation results in intracellular filament accummulation The transmission is autosomal recessive Clinical features Nerve conduction studies (NCS)…
Genetics
- This is caused by mutations in the GAN gene
- The gene encodes gigatoxin
- The mutation results in intracellular filament accummulation
- The transmission is autosomal recessive
Clinical features
Nerve conduction studies (NCS)
Magnetic resonance imaging (MRI) brain: features
Differential diagnoses: other causes of giant axons
Investigational treatments
References
- Echaniz-Laguna A, Cuisset JM, Guyant-Marechal L, et al. Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. Neurogenetics 2020; 21:29-37.
- Xu M, Da YW, Liu L, Wang F, Jia JP. Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene. J Child Neurol 2013; 28:1316-1319.
- Kamate M, Ramakrishna S, Kambali S, Mahadevan A. Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. BMJ Case Rep 2014; pii: bcr2014204481.
- Almeida HL Jr, Garcias G, Silva RM, Batista SL, Pasetto F. Pili canaliculi as manifestation of giant axonal neuropathy. An Bras Dermatol 2016; 91(5 suppl 1):125-127.
- Erol I, Alehan F, Alkan O, Bruno C. Involvement of the globus pallidus in giant axonal neuropathy. Pediatr Neurol 2012; 47:382-384.
- And 4 more. Subscribe to see the full list
