Brain abnormalities in SMA?

Canadian researchers have compared the brain imaging of patients with spinal muscular atrophy (SMA) treated with risdiplam or nusinersen with those of people without the disease:

  • 21 SMA patients with an average age of 17.5 years were included in the study,
  • compared with a control group of 21 people who did not have SMA,
  • 43% of patients in the SMA group had structural abnormalities of the brain compared with 10% in the control group,
  • These were most frequently enlargement of the arachnoid spaces and/or ventriculomegaly of variable size,
  • The frequency of these anomalies was inversely correlated with the number of copies of the SMN2 gene.

According to the authors, cerebral damage is not all that rare in SMA, although the causes (primary or secondary) are not yet understood. This work could also serve as a reference for subjects treated with one of the three innovative treatments.

 

Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study. Groulx-Boivin E, Oliveira-Carneiro A et al. Neurol Genet. 2024 Sep.