giant axonal neuropathy

Pathology

• sensorimotor neuropathy affecting both peripheral nerves & the central nervous system
• neurofilament accumulation, leading to segmental distension of axons

Genetics

• autosomal recessive
• associated with defects in GAN

More general terms

• genetic disease of the central nervous system
• genetic disease of the peripheral nervous system

Database

• OMIM: https://mirror.omim.org/entry/256850