Cognitive performance of adult patients with SMA before and after treatment initiation with nusinersen.

ABSTRACT:

Background

Spinal muscular atrophy (SMA) is a genetic neuromuscular disease caused by mutations of the SMN1 gene. Deficient SMN protein causes irreversible degeneration of alpha motor neurons characterized by progressive muscle weakness and atrophy. Considering that SMA is a multi-systemic disorder and SMN protein was found to be expressed in cortical structures, the cognitive profile of adult patients with SMA has recently been of particular interest. With nusinersen, a novel, disease-modifying drug has been established, but its effects on neuropsychological functions have not been validated yet. Aim of this study was to investigate the cognitive profile of adult patients with SMA during treatment initiation with nusinersen and to reveal improvement or deterioration in cognitive p

SUBMITTER: Vidovic M 

PROVIDER: S-EPMC10243018 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature