Structural brain abnormalities are more common in patients with spinal muscular atrophy (SMA) compared with typically developing peer controls, according to a poster presented at the 52nd Child Neurology Society Annual Meeting in Vancouver, British Columbia, Canada.

“Understanding changes in the brain architecture of the SMA population can inform the development of adjunct therapies targeting the central nervous system,” wrote corresponding author Emilie Groulx-Boivin of McGill University, Montreal, Quebec, Canada, and coauthors in the poster.

Researchers used magnetic resonance imaging (MRI) to investigate structural brain abnormalities in 21 children and adults with SMA and 21 healthy peer controls matched by age and sex. Study participants ranged in age from 5 years to 45 years.

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Structural brain abnormalities were identified in 43% of patients with SMA compared with 10% controls, according to the poster. The corresponding odds ratio for structural brain abnormalities with SMA was 7.1.

A third of patients with SMA and structural brain abnormalities had both supratentorial ventriculomegaly and widening of arachnoid spaces, researchers reported. Among patients with SMA, structural brain abnormalities occurred in 60% with two SMN2 copies, 40% with three SMN2 copies, and 33% with four SMN2 copies.

“SMA patients with abnormal brain MRIs had lower motor function scores … than those with normal brain MRIs,” researchers reported, “although the difference was not statistically significant.”

Reference

Groulx-Boivin E, Oliveira-Carneiro A, Carlson H, et al. Structural brain abnormalities detected by magnetic resonance imaging in spinal muscular atrophy. Poster presented at Child Neurology Society Annual Meeting; October 4-7, 2023; Vancouver, British Columbia, Canada.