title: Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
abstract: Giant axonal neuropathy (GAN) is an autosomal recessive neurologic disorder clinically characterized by a severe polyneuropathy, CNS abnormalities, and characteristic tightly curled hair. Recently, mutations in the gigaxonin gene have been identified as the underlying genetic defect. The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.
authors.affiliation: Department of Neurology, University of Münster, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Kuhlenbäumer
authors.forename: P
authors.initials: P
authors.lastname: Young
authors.forename: C
authors.initials: C
authors.lastname: Oberwittler
authors.forename: G
authors.initials: G
authors.lastname: Hünermund
authors.forename: A
authors.initials: A
authors.lastname: Schirmacher
authors.forename: K
authors.initials: K
authors.lastname: Domschke
authors.forename: B
authors.initials: B
authors.lastname: Ringelstein
authors.forename: F
authors.initials: F
authors.lastname: Stögbauer
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001369:Axons / Q000473:pathology; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004594:Electrophysiology; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; C416508:GAN protein, human