Seth J. Perlman, Soe Mar

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

28 Scopus citations


Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrophies: X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Alexander disease, Canavan disease, megalencephalic leukoencephalopathy with subcortical cysts and vanishing white matter disease.

Original languageEnglish
Title of host publicationNeurodegenerative Diseases
Number of pages18
StatePublished - Apr 19 2012

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598


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