T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN).

ABSTRACT:

Introduction/aims

Giant axonal neuropathy (GAN) is a hereditary neurodegenerative disease due to the absence or loss of function of the gigaxonin gene. Pathologic findings in GAN are those of "dying-back" axonal degeneration, in which the distal axon degenerates but the more proximal axon and neuronal cell body remain intact. Aims of this study were to (1) document imaging abnormalities that may occur in the spinal cords of GAN patients; and (2) assess histologically the spinal cords of GAN rodent models.

Methods

A clinical trial of intrathecal (IT) scAAV9/JeT- GAN gene transfer provided a cohort of GAN patients for study. We examined spinal magnetic resonance imaging (MRI) studies from a subset of pretreatment GAN patients ages 6-14 years. For radiologic-pathologic correlat

SUBMITTER: Armao D 

PROVIDER: S-EPMC12529028 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature