582P Brain abnormalities in spinal muscular atrophy type 1 with neurodevelopmental disorders

Recent literature has reported neurodevelopmental changes in spinal muscular atrophy (SMA) type 1, especially autism spectrum disorder (ASD). Furthermore, previous reports before the advent of disease-modifying therapies suggested brain involvement in 5q-SMA. In this work, we present five SMA type 1...

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Published in:Neuromuscular disorders : NMD 2024-10, Vol.43, p.104441, Article 104441.337
Main Authors: Mendonca, R. Holanda, Sindeaux, R. Diógenes Alencar, Camelo, C. Gontijo, Casella, E. Barbante, Chillon, K. Faria Silva, da Rocha, A. Jose, Zanoteli, E.
Format: Article
Language:English
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Summary:Recent literature has reported neurodevelopmental changes in spinal muscular atrophy (SMA) type 1, especially autism spectrum disorder (ASD). Furthermore, previous reports before the advent of disease-modifying therapies suggested brain involvement in 5q-SMA. In this work, we present five SMA type 1 and pre-symptomatic patients with two copies of SMN2 who presented neurodevelopmental disorders and were submitted to brain MRI with DTI (diffusion tensor imaging). These patients presented with abnormalities in the white matter of the frontal lobes on brain MRI, which correlates with less representation association fibers (superior longitudinal fasciculus) on DTI. Brain involvement in SMA type 1 may occur even in patients treated with new disease-modifying therapies, and its correlation with neurodevelopmental disorders remains an open question.
ISSN:0960-8966
DOI:10.1016/j.nmd.2024.07.346