Giant axonal neuropathy is a rare severe autosomal recessive childhood disorder 
affecting both the peripheral nerves and the central nervous system. Peripheral 
nerves characteristically show giant axonal swellings filled with 
neurofilaments. The giant axonal neuropathy gene was localised by homozygosity 
mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously 
expressed cytoskeletal protein named gigaxonin.We describe a consanguineous 
Algerian family with three affected sibs aged 16, 14 and 12 years who present a 
mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis 
which was moderate in the two elder patients, severe in the third one, with no 
sign of central nervous system involvement and normal cerebral magnetic 
resonance imaging. This clinical picture is different from the classical severe 
form, with kinky hairs and early onset of central nervous system involvement and 
from the less severe form, with protracted course and late involvement of 
central nervous system. Nerve biopsy showed a moderate loss of myelinated fibers 
and several giant axons with thin or absent myelin, filled with neurofilaments. 
This neuropathological aspect is similar to the previously described families 
linked to the gigaxonin gene. Genetic study in this family showed absence of 
linkage to chromosome 16q24.1, indicating for the first time, a genetic 
heterogeneity in giant axonal neuropathy. We propose to call this form of giant 
axonal neuropathy giant axonal neuropathy 2, and to use the name of giant axonal 
neuropathy 1 for the form linked to 16q24.1.