Giant axonal neuropathy: clinical and genetic study in six cases

Demir E., Bomont P., Erdem S., Cavalier L., Demirci M., Kose G., ...More

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, vol.76, no.6, pp.825-832, 2005 (SCI-Expanded) identifier identifier identifier


Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly'' hair. The disease is caused by GAN gene mutations on chromosome 16q24.1.