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Abstract #1772

Effect of mutation location on Duchenne brain morphology

Nathalie Doorenweerd 1,2 , Eve Dumas 1 , Chiara Straathof 3 , Erik Niks 3 , Beatrijs Wokke 3 , Janneke van den Bergen 3 , Debby Schrans 4 , Erik van Zwet 5 , Mark van Buchem 1,2 , Andrew Webb 1 , Jos Hendriksen 4,6 , Jan Verschuuren 3 , and Hermien Kan 1,2

1 Radiology, Leiden University Medical Center, Leiden, Zuid Holland, Netherlands, 2 Leiden Institute for Brain and Cognition, Leiden, Zuid Holland, Netherlands, 3 Neurology, Leiden University Medical Center, Leiden, Zuid Holland, Netherlands, 4 Department of Neurological Learning Disabilities, Kempenhaeghe Epilepsy Centre, Heeze, Noord Brabant, Netherlands, 5 Medical Statistics, Leiden University Medical Center, Leiden, Zuid Holland, Netherlands, 6 Neurology, Maastricht University Medical Center, Maastricht, Limburg, Netherlands

In Duchenne muscular dystrophy (DMD), patients with a mutation downstream of exon 44 on the DMD gene have an increased risk of neuropsychological and behavioral problems. Using quantitative MRI, we show significantly smaller intracranial, total brain and grey matter volume in patients with a mutation downstream of exon 44 compared to controls. Mean diffusivity increases were also more pronounced in this patient group compared to controls. These findings and can aid in determining the underlying mechanism of cognitive or behavioral dysfunction in DMD.

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