P.2.12 The Duchenne brain: A matter of grey and white

• Published in: Neuromuscular disorders : NMD 2013-10, Vol.23 (9), p.752-752
• Main Authors: Doorenweerd, N, Straathof, C.S.M, Dumas, E.M, Niks, E.H, Schrans, D.G.M, Wokke, B.H.A, van den Bergen, J.C, Webb, A.G, van Buchem, M.A, Hendriksen, J.G.M, Verschuuren, J.J.G, Kan, H.E
• Format: Article
• Language: English
• Subjects: Neurology
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2013.06.417

Learning and behavioral problems are common in Duchenne muscular dystrophy (DMD) patients. In normal brain, various dystrophin isoforms are expressed, but little is known about their function. Cortical atrophy and disordered architecture have been reported in post mortem and CT scan studies. Since MRI is currently the most advanced technique to provide detailed morphological information of the brain, we performed structural MRI in 35 boys with DMD and 22 healthy age-matched controls (age 8–18 years). Three-dimensional T1-weighted scans were obtained for quantitative volume measurements. Diffusion tensor images (DTI) were obtained as a measure of structural integrity of the white matter. Localization of volumetric differences was assessed with voxel-based morphometry analysis. A cognitive profile of the boys was evaluated and found to be representative of the Dutch DMD population. Total brain volume was significantly smaller in DMD both before and after correcting for intracranial volume. Grey matter volume was also smaller in DMD and we found no focal differences in grey matter, suggesting an overall deficiency in neuronal cell bodies. The white matter volume in DMD was similar to controls. Throughout the white matter tracts, DTI showed lower fractional anisotropy (FA) in DMD indicating lower directionality of the neuronal fiber tracts. DTI also showed higher mean diffusivity (MD) in DMD. Lower FA and higher MD indicate reduced fiber density, increased membrane permeability and/or increased structural disorganization. These correspond with altered white matter integrity. In summary, our findings show that both the grey matter and white matter are affected in DMD, with a reduction in volume in the grey matter and altered integrity of the white matter. Future analyses will correlate these morphological abnormalities to cognitive function and behavioral problems.