Giant axonal disease: Report of eight cases

İNCECİK F., Herguner O. M., CEYLANER S., ZORLUDEMİR S., ALTUNBAŞAK Ş.

Brain and Development, cilt.37, sa.8, ss.803-807, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 8
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.braindev.2014.12.002
  • Dergi Adı: Brain and Development
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.803-807
  • Anahtar Kelimeler: Giant axonal neuropathy, GAN mutations, Children, CHROMOSOME 16Q24.1, ALGERIAN FAMILY, NERVOUS-SYSTEM, NEUROPATHY, GENE, GIGAXONIN
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 2014 The Japanese Society of Child Neurology.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. Conclusion: 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.