Giant axonal neuropathy

[MIM 256 850]

Very rare. Autosomal recessive transmission of a mutation of the GAN gene (16q23.2) that codes for gigaxonin, a cytoskeleton protein.

Chronic sensitivomotor polyneuropathy associating:


-        a dilation of the diameter of the central and peripheral axons due to accumulation of neurofilaments in the axons

-        hair abnormalities: tightly curled white hair, twisted eyelashes.


Onset between 2 and 7 years of age.


Clinical presentation:

-        gait disorders: inverted feet, crouched gait, loss of walking ability at the end of the first decade

-        sensitivomotor neuropathy

-        kyphoscoliosis

-        pyramidal signs, cerebellar ataxia, dysarthria, dysphagia, tremor

-        optic atrophy, ophthalmoplegia

-        scoliosis

-        dysautonomic disorders: hemodynamic instability, thermal regulation disorders, bladder dysfunction, gastroparesis

-        restrictive syndrome, obstructive sleep apnea


Death usual during the third decade of life.


Anesthetic implications:

Restrictive syndrome. Risk of aspiration (gastroparesis, bulbar disorders). Risk of hyperkalemic response to succinylcholine. Unreliable monitoring of muscle relaxation.


References :

-        Mitchell A, Moskovits PE.
Anaesthesia for a patient with giant axonal neuropathy.
Anaesthesia. 1991; 46:46970.

-        Diagos P, Bos JAG, Verrips A, Booij LHDJ.
Giant axonal neuropathy and anaesthesia. Anaesthesia 2003 ; 58 : 723-4.

-        Kachko L, Tseitlin E, Straussberg R, Attias J, Bar-On E, Katz J.
Anesthesia for a child with giant axonal neuropathy.
Acta Anaesthesiol Scand 2007;51:267-8.

-        Yousef M, Bharucha-Goebel D, Saade D, Averion G, Bönnemann CG, Quezado ZMN.
Anesthetic management of children and adolescents with Giant Axonal Neuropathy: a large case series.
A&A Practice 2021;15:e01539.


Updated: June 2023