Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter |
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| Authors: | Prisca S. Leferink Nicole Breeuwsma Marianna Bugiani Marjo S. van der Knaap Vivi M. Heine |
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| Affiliation: | 1. Department of Pediatrics/Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands;2. Department of Pathology, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands;3. Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands;4. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Universiteit Amsterdam, The Netherlands |
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| Abstract: | Leukodystrophies are often devastating diseases, presented with progressive clinical signs as spasticity, ataxia and cognitive decline, and lack proper treatment options. New therapy strategies for leukodystrophies mostly focus on oligodendrocyte replacement to rescue lack of myelin in the brain, even though disease pathology also often involves other glial cells and the spinal cord. In this study we investigated spinal cord pathology in a mouse model for Vanishing White Matter disease (VWM) and show that astrocytes in the white matter are severely affected. Astrocyte pathology starts postnatally in the sensory tracts, followed by changes in the astrocytic populations in the motor tracts. Studies in post‐mortem tissue of two VWM patients, a 13‐year‐old boy and a 6‐year‐old girl, confirmed astrocyte abnormalities in the spinal cord. For proper development of new treatment options for VWM and, possibly, other leukodystrophies, future studies should investigate spinal cord involvement. |
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| Keywords: | astrocytes leukoencephalopathy neuroglia neuropathology spinal cord vanishing white matter disease |
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