title: Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
abstract: 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.
authors.affiliation: Neuromuscular Disease Unit, Department of Pediatrics, University of Genova, Giannina Gaslini Institute, Genova, Italy. claudiobruno@ospedale-gaslini.ge.it
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: E
authors.initials: E
authors.lastname: Tonoli
authors.forename: M L
authors.initials: ML
authors.lastname: Lispi
authors.forename: D
authors.initials: D
authors.lastname: Cassandrini
authors.forename: M
authors.initials: M
authors.lastname: Pedemonte
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: C
authors.initials: C
authors.lastname: Minetti
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D001369:Axons / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004576:Electromyography; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D007558:Italy; D008297:Male; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D016900:Neurofilament Proteins; D013497:Sural Nerve / Q000473:pathology
chemical_list: D003598:Cytoskeletal Proteins; C416508:GAN protein, human; D016900:Neurofilament Proteins