Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3.

ABSTRACT:

Background and objective

Proximal spinal muscular atrophy (SMA) is caused by deficiency of the ubiquitously expressed survival motor neuron protein. Although primarily a hereditary lower motor neuron disease, it is probably also characterized by abnormalities in other organs. Brain abnormalities and cognitive impairment have been reported in severe SMA. We aimed to systematically investigate brain structure in SMA using MRI.

Methods

We acquired high-resolution T1-weighted images of treatment-naive patients with SMA, age- and sex-matched healthy and disease controls with other neuromuscular diseases, on a 3 T MRI scanner. We performed vertex-wise whole brain analysis and region of interest analysis of cortical thickness (CT), and volumetric analysis of the thalamus and compar

SUBMITTER: Stam M 

PROVIDER: S-EPMC11617753 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature