A missense mutation in the <i>Hspa8</i> gene encoding heat shock cognate protein 70 causes neuroaxonal dystrophy in rats.

ABSTRACT: Neuroaxonal dystrophy (NAD) is a neurodegenerative disease characterized by spheroid (swollen axon) formation in the nervous system. In the present study, we focused on a newly established autosomal recessive mutant strain of F344-kk/kk rats with hind limb gait abnormalities and ataxia from a young age. Histopathologically, a number of axonal spheroids were observed throughout the central nervous system, including the spinal cord (mainly in the dorsal cord), brain stem, and cerebellum in F344-kk/kk rats. Transmission electron microscopic observation of the spinal cord revealed accumulation of electron-dense bodies, degenerated abnormal mitochondria, as well as membranous or tubular structures in the axonal spheroids. Based on these neuropathological findings, F3

SUBMITTER: Tanaka M 

PROVIDER: S-EPMC10880117 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature