title: Giant axonal disease: Report of eight cases.
abstract: BACKGROUND
  Giant axonal neuropathy (GAN) is an autosomal recessive inherited progressive motor and sensory neuropathy with typical onset in early childhood. The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN.
  
  
  METHODS
  Eight children with GAN were retrospectively analyzed. Five (62.5%) were girls and 3 (37.5%) were boys with the mean age on admission 10.13±3.8 years (range: 5-15 years).
  
  
  RESULTS
  Parental consanguinity was found in all the families. The patients had the classical clinical phenotype characterized by a severe axonal neuropathy with kinky hair. Two patients had contractures of extremities, and not walking. One patient was walking with aid. The other patients were walking without aid. Mutation analysis was performed in two patients and IVS9 (+1G>T) (homozygous) mutation was detected.
  
  
  CONCLUSIONS
  The classical clinical findings allowed considering the GAN diagnosis, but, in atypical cases and milder phenotypes, the presence of giant axons in nerve biopsy was helpful to specify molecular analysis.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey. Electronic address: fincecik@cu.edu.tr.
authors.forename: Faruk
authors.initials: F
authors.lastname: Incecik
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
authors.forename: Ozlem M
authors.initials: OM
authors.lastname: Herguner
authors.affiliation: Intergen Genetics Centre, Ankara, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.affiliation: Department of Pathology, Cukurova University Faculty of Medicine, Adana, Turkey.
authors.forename: Suzan
authors.initials: S
authors.lastname: Zorludemir
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
authors.forename: Sakir
authors.initials: S
authors.lastname: Altunbasak
mesh_terms: D000293:Adolescent; D001369:Axons / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D056768:Giant Axonal Neuropathy / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D009154:Mutation; D012189:Retrospective Studies
chemical_list: D003598:Cytoskeletal Proteins; C416508:GAN protein, human
keywords: Children; GAN mutations; Giant axonal neuropathy