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.
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Timmerman, V., De Jonghe, P. & Van Broeckhoven, C. Of giant axons and curly hair. Nat Genet 26, 254–255 (2000). https://doi.org/10.1038/81521
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DOI: https://doi.org/10.1038/81521