Giant axonal neuropathy (GAN) is a recessive motor and sensory neuropathy of the central and peripheral nervous system. People with GAN show a distortion of nerve fibres due to axonal swellings caused by the accumulation of neurofilaments. A new study reports the cloning of the gene underlying GAN, whose protein product, gigaxonin, is a novel protein of the cytoskeleton and a member of the kelch-repeat superfamily.
- Vincent Timmerman
- Peter De Jonghe
- Christine Van Broeckhoven
