Journal article
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
E Clement, E Mercuri, C Godfrey, J Smith, S Robb, M Kinali, V Straub, K Bushby, A Manzur, B Talim, F Cowan, R Quinlivan, A Klein, C Longman, R McWilliam, H Topaloglu, R Mein, S Abbs, K North, AJ Barkovich Show all
Annals of Neurology | Published : 2008
DOI: 10.1002/ana.21482
Abstract
Objective: To assess the range and severity of brain involvement, as assessed by magnetic resonance imaging, in 27 patients with mutations in POMT1 (4), POMT2 (9), POMGnT1 (7), Fukutin (4), or LARGE (3), responsible for muscular dystrophies with abnormal glycosylation of dystroglycan (dystroglycanopathies). Methods: Blinded review of magnetic resonance imaging brain scans from 27 patients with mutations in 1 of these 5 genes. Results: Brain magnetic resonance images were normal in 3 of 27 patients; in another 5, only nonspecific abnormalities (ventricular dilatation, periventricular white matter abnormalities, or both) were seen. The remaining 19 patients had a spectrum of structural defects..
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Awarded by Medical Research Council
Funding Acknowledgements
The Support of the Department of Health (NCG) is also gratefully acknowledged (FM).