Abstract #1285
Reduced cerebral blood flow in boys with Duchenne muscular dystrophy
Nathalie Doorenweerd 1,2 , Eve M Dumas 2 , Eidrees Ghariq 1,3 , Sophie Schmid 1,3 , Chiara S.M. Straathof 2 , Pietro Spitali 4 , Ieke Ginjaar 5 , Beatrijs H Wokke 2 , Debby G.M. Schrans 6 , Janneke C van den Bergen 2 , Erik W van Zwet 7 , Andrew G Webb 1 , Mark A van Buchem 1 , Mathias J.P. van Osch 1,3 , Jan J.G.M. Verschuuren 2 , Jos G.M. Hendriksen 6,8 , Erik H Niks 2 , and Hermien E Kan 1,3
1
Department of Radiology, C.J. Gorter Center
for High Field MRI, Leiden University Medical Center,
Leiden, Zuid Holland, Netherlands,
2
Department
of Neurology, Leiden University Medical Center, Leiden,
Zuid Holland, Netherlands,
3
Leiden
Institute for Brain and Cognition, Leiden, Zuid Holland,
Netherlands,
4
Department
of Human Genetics, Leiden University Medical Center,
Leiden, Zuid Holland, Netherlands,
5
Department
of Clinical Genetics, Leiden University Medical Center,
Leiden, Zuid Holland, Netherlands,
6
Department
of Neurological Learning Disabilities, Kempenhaeghe
Epilepsy Center, Heeze, Noord-Brabant, Netherlands,
7
Department
of Medical Statistics, Leiden University Medical Center,
Leiden, Zuid Holland, Netherlands,
8
Department
of Neurology, Maastricht University Medical Center,
Limburg, Netherlands
In addition to muscle weakness, Duchenne muscular
dystrophy (DMD) is characterized by specific learning
and behavioral disabilities. DMD is caused by mutations
in the DMD gene leading to absence of one or more
isoforms of the dystrophin protein, which is expressed
in muscle, brain, vascular endothelial and smooth muscle
cells. We used pCASL to show a reduction in cerebral
blood flow in DMD patients compared to healthy controls.
These changes were most profound in patients missing
both full length dystrophin and Dp140, which suggests
that full length and Dp140 play supplementary roles in
the vascular involvement in DMD brain pathophysiology.
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