Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2.

ABSTRACT:

Purpose

Spinocerebellar ataxia SCA1 and SCA2 are adult-onset hereditary disorders, due to triplet CAG expansion in their respective causative genes. The pathophysiology of SCA1 and SCA2 suggests alterations of cerebello-thalamo-cortical pathway and its connections to the basal ganglia. In this framework, thalamic integrity is crucial for shaping efficient whole-brain dynamics and functions. The aims of the study are to identify structural changes in thalamic nuclei in presymptomatic and symptomatic SCA1 and SCA2 patients and to assess disease progression within a 1-year interval.

Material and methods

A prospective 1-year clinical and MRI assessment was conducted in 27 presymptomatic and 23 clinically manifest mutation carriers for SCA1 and SCA2 expansions. Cross-sectional an

SUBMITTER: Grisoli M 

PROVIDER: S-EPMC11322486 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature