Central and Peripheral Nervous System Abnormalities in an Animal Model of Merosin Deficient Congenital Muscular Dystrophy
Smathers, Sarah A.
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Congenital muscular dystrophy (CMD) is a family of muscle disorders which present clinically as lack of muscle tone at birth, joint stiffness and contractures, markedly delayed motor development, slowly progressive weakness, and muscle atrophy. Merosin deficient CMD is a more severe, newly discovered autosomal recessive form of muscular dystrophy, whose patients have all CMD hallmark symptoms, but additionally are unable to walk independently. Furthermore, such patients also have findings consistent with abnormal brain white matter as observed by Magnetic Resonance Imaging (MRI). These observed changes showed a focal or diffuse abnormality resembling leukodystrophies, but merosin deficient patients have normal intelligence and cognitive function. Our goal was to characterize a mouse model of merosin deficient CMD using histology, immunohistochemistry and molecular techniques. Histological studies were performed on the peripheral nerve of the mice to determine if prior studies have been accurate in describing the pathology of merosin deficient CMD. Results of this study confirm prior peripheral nerve studies. Specifically our study wanted to demonstrate that the mice produce pathology that reflected the cause of the brain white matter abnormalities. Our studies suggest that the abnormal white matter changes are not due to a dysmyelination, but rather a fluid extravasation, caused by increased permeability of the blood brain barrier.