Giant axonal neuropathy (GAN)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Giant axonal neuropathy (GAN). This is caused by mutations in the GAN gene. The gene encodes gigatoxin. Fully referenced neurology checklist.
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
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Nerve conduction studies (NCS)
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Magnetic resonance imaging (MRI) brain: features
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Differential diagnoses: other causes of giant axons
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Investigational treatments
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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.
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