" /> Giant axonal neuropathy 1, autosomal recessive - CISMeF





Preferred Label : Giant axonal neuropathy 1, autosomal recessive;

Symbol : GAN1;

CISMeF acronym : GAN; GAN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GAN;

Description : Giant axonal neuropathy is a chronic polyneuropathy of childhood that affects both the peripheral and central nervous systems and is accompanied by characteristically kinky hair and unique posture of legs (see illustrations by Berg et al., 1972; Igisu et al., 1975; Carpenter et al., 1974). Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder (Tazir et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gigaxonin gene (GAN, 605379.0001);

Prefixed ID : #256850;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.