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From the Neuromuscular Disease Unit (Drs. Bruno, Cassandrini, Pedemonte, and Minetti, and E. Tonoli) and Division of Pediatrics III (Dr. Filocamo), Department of Pediatrics, University of Genova, Giannina Gaslini Institute; Unit of Molecular Medicine (Drs. Bertini, Lispi, and Santorelli), Bambino Gesù Hospital, Rome; Institute of Neurological Sciences (Drs. Federico, Dotti, and Malandrini), University of Siena; Department of Neurological Sciences, Vision, and Genetics and Center for Biomedical Research (Dr. Schenone), University of Genova, Italy.
Address correspondence and reprint requests to Dr. C. Bruno, Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Istituto Giannina Gaslini, Largo G. Gaslini 5, I-16147 Genova, Italy; e-mail: claudiobruno{at}ospedale-gaslini.ge.it
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 gene have been reported as the underlying genetic defect. Gigaxonin, a member of the BTB/kelch superfamily proteins, seems to play a crucial role in the cross talk between the intermediate filaments and the membrane network. The authors report clinical and molecular findings in five Italian patients with GAN. This study shows the allelic heterogeneity of GAN and expands the spectrum of mutations in the GAN gene. The frequent occurrence of private mutations stresses the importance of a complete gene analysis.
Received April 22, 2003. Accepted in final form August 13, 2003.
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