Abstract
The recently arrived Leukodystrophies is a thorough, readable introduction to the leukodystrophies, covering clinical presentations and treatments, as well as introducing key aspects of the basic pathophysiology. Leukodystrophies, genetically determined diseases leading to loss of myelin or failure of myelin to develop normally, have substantial chronic morbidity as well as elevated mortality. Leukodystrophies can present at any age from infancy to adulthood, with huge variability in disease progression, multiple different clinical presentations from developmental delay to seizures to spasticity, and few effective treatments. Rapid advances in imaging, genetics, and recognition of the high prevalence of leukodystrophies (close to 1 in 8000 live births [ [1] Bonkowsky J.L. Nelson C. Kingston J.L. Filloux F.M. Mundorff M.B. Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010; 75: 718-725 Crossref PubMed Scopus (102) Google Scholar ]) makes an understanding of the leukodystrophies necessary for specialists in genetics or neurology.
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