G.P.127

• Published in: Neuromuscular disorders : NMD 2014-10, Vol.24 (9), p.838-839
• Main Authors: Doorenweerd, N, Dumas, E.M, Ghariq, E, Schmid, S, Straathof, C.S.M, Spitali, P, Ginjaar, H.B, Wokke, B.H, Schrans, D.G.M, van den Bergen, J.C, van Zwet, E.W, Webb, A, van Buchem, M.A, van Osch, M.J.P, Verschuuren, J.J.G, Hendriksen, J.G.M, Niks, E.H, Kan, H.E
• Format: Article
• Language: English
• Subjects: Neurology
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2014.06.157

Duchenne muscular dystrophy (DMD) is a neuromuscular disorder known to be associated with specific learning and behavioral disabilities. Recently, we found cerebral anatomical alterations in boys with DMD, especially in those predicted to lack the Dp140 isoform of the dystrophin protein (DMD_Dp140-). To investigate whether these changes are accompanied by changes in cerebral blood supply, we now report on an arterial spin labeling (ASL) MRI study of the same boys, in whom brain perfusion was measured non-invasively. T1-weighted and pseudo continuous ASL scans were obtained on a 3T MR scanner from 27 boys with DMD and 20 age-matched healthy control boys (ages 8–18 years). The mean whole brain grey matter (GM) perfusion was quantified per individual, and voxelwise group analysis was performed to locate regions with different cerebral blood flow (CBF) using cluster-based multiple comparison correction. Group comparisons were made between DMD and controls using a t -test, and between DMD_Dp140+ and DMD_Dp140− and controls using ANOVA. DMD boys had significantly lower mean whole brain GM CBF (41.7 ± 7.8 versus 49.9 ± 8.7 mL/100 g/min in controls ( p < 0.001)). No correlation with age or GM volume was found. Regional analysis of the perfusion showed lower CBF widespread throughout the GM in DMD boys compared to controls. DMD_Dp140- mean whole brain GM CBF was lower compared to controls, but differences in whole brain GM CBF were not significant between DMD_Dp140+ and controls or between DMD_Dp140+ and DMD_Dp140−. DMD_Dp140− did show larger regions with more extensive CBF reductions compared to DMD_Dp140+. It is known that in muscle dystrophin interacts with neuronal nitric oxide synthase (nNOS) which plays a key role in vasoconstriction and dilation. Our findings further substantiate the vascular involvement in DMD and show that not only brain structure is altered, but also the CBF, which is frequently considered a proxy for glucose and oxygen delivery.