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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