Longitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia.

ABSTRACT:

Objective

In autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) disease, severity and age of onset vary greatly, hindering to objectively measure and predict clinical progression. Thickening of the retinal nerve fiber layer is distinctive of ARSACS patients, as assessed by optical coherence tomography, whereas conventional brain magnetic resonance imaging findings include both supratentorial and infratentorial changes. Because longitudinal imaging studies in ARSACS patients are not available to define these changes as biomarkers of disease progression, we aimed to address this issue in the ARSACS mouse model.

Methods

We performed longitudinal retinal OCT and brain MRI in the Sacs^-/- ARSACS mouse model, alongside motor and coordination assessment in

SUBMITTER: Gigliucci V 

PROVIDER: S-EPMC11831876 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature