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Giant Axonal Neuropathy is an autosomal recessive genetic disorder caused by mutations on both copies of the GAN gene.  Severity of disease progression widely varies, as some missense mutation patients have a much slower progression.  Patients whose GAN mutations render no level of functional protein typically die in the 3rd decade.  Some, but not all genetically diagnosed GAN patients have extremely kinky hair.

 
Adults with CMT Type 2 whose causal gene is unknown may have GAN if they have trouble balancing and trouble tracking objects with their eyes, or rapid eye movements when looking to the side, in addition to peripheral weakness.
 
Prevention Genetics offers GAN gene sequencing.
Hannah’s Hope Fund funded the development of a first in human gene therapy to the central nervous system by lumbar puncture route of administration. As of Feb of 2017, seven patients have been injected.  While it is too early to determine if this is working, there are positive signals.