Giant axonal neuropathy (GAN) is an autosomal recessive neurologic disorder 
clinically characterized by a severe polyneuropathy, CNS abnormalities, and 
characteristic tightly curled hair. Recently, mutations in the gigaxonin gene 
have been identified as the underlying genetic defect. The authors report two 
novel mutations confirming that GAN is caused by mutations in the gigaxonin gene 
and raise the question whether some mutations may cause a mild subclinical 
neuropathy.