Article
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Neurology - 13 Jan 2004
Bruno C, Bertini E, Federico A, Tonoli E, Lispi M L, Cassandrini D, Pedemonte M, Santorelli F M, Filocamo M, Dotti M T, Schenone A, Malandrini A, Minetti C
Abstract excerpt
Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder of early onset, clinically characterized by a progressive involvement of both peripheral and CNS. The diagnosis is based on the presence of characteristic giant axons, filled with neurofilaments, on nerve biopsy. Recently, the defective protein, gigaxonin, has been identified and different pathogenic mutations in the gigaxonin...
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