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Article

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.

Molecular genetics & genomic medicine - 1 Jun 2023

Ashrafi Mahmoud Reza, Dehnavi Ali Zare, Tavasoli Ali Reza, Heidari Morteza, Ghahvechi Akbari Masoud, Ronagh Ali Reza, Ghafouri Mohammad, Mahdieh Nejat, Mohammadi Pouria, Rezaei Zahra

Abstract excerpt

BACKGROUND: Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease-causing variants in the gigaxonin gene (GAN) cause autosomal recessive giant axonal neuropathy. Facial weakness, nystagmus, scoliosis, kinky or curly hair, pyramidal and cerebellar signs, and sensory and motor axonal neuropathy are the main symptoms...

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Identifiers

PMID: 36866531
DOI: 10.1002/mgg3.2159
PMCID: PMC10265088

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