Nature Genetics
26, 254 - 255 (2000)
doi:10.1038/81521
Of giant axons and curly hairVincent Timmerman1, Peter De Jonghe1, 2
& Christine Van Broeckhoven11
Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, Antwerpen, Belgium. timmerm@uia.ua.ac.be, dejonghe@uia.ua.ac.be
2
Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium.
cbvroeck@uia.ua.ac.be
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.
|
