Giant axonal disease: Report of eight cases

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

BRAIN & DEVELOPMENT, vol.37, no.8, pp.803-807, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 8
  • Publication Date: 2015
  • Doi Number: 10.1016/j.braindev.2014.12.002
  • Journal Name: BRAIN & DEVELOPMENT
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.803-807
  • Keywords: Giant axonal neuropathy, GAN mutations, Children, CHROMOSOME 16Q24.1, ALGERIAN FAMILY, NERVOUS-SYSTEM, NEUROPATHY, GENE, GIGAXONIN
  • Çukurova University Affiliated: Yes

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.