Giant Axon Neuropathie, GAN1 - GAN

Klinische Symptomatik

Giant Axon Neuropathy (GAN) belongs to the rare childhood neuropathies. GAN is characterized by a quickly progressing peripheral motor and sensory neuropathy first manifest in early childhood, combined with participation of the central nervous system (CNS) and extremely curly hair.
A Nervus suralis biopsy clearly reveals disproportionally large axons. These giant axons are caused by an accumulation of neurofilaments. Gigaxonin is essential in the stabilization of the cytoskeleton.

Genetik

Giant Axon Neuropathy is an autosomal recessive disease caused by mutations in the GAN gene located on chromosome 16 (16q24.1). Mutations lead to a loss of function in the gene. Ubiquitous expression of the GAN gene can cause changes in the cytoskeleton and extremely crimpy hair. A milder form with a later age of onset has been described but could not be associated with mutations in the GAN gene.

Häufigkeit

Although GAN mutations are rare, they have cropped up worldwide independent of ethnicity.

 

Diagnostik