Leading science, pioneering therapies
CRM Publications

Hypomyelinating leukodystrophies: Translational research progress and prospects.

TitleHypomyelinating leukodystrophies: Translational research progress and prospects.
Publication TypeJournal Article
Year of Publication2014
AuthorsPouwels PJW, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SCL, Bertini E, Kolschütter A, Richardson W, ffrench-Constant C, Köhler W, Rowitch D, A Barkovich J
JournalAnn Neurol
Date Published2014 Jun 11
ISSN1531-8249
Abstract

Hypomyelinating leukodystrophies represent a genetically heterogeneous but clinically overlapping group of heritable disorders. Current management approaches in the care of the patient with a hypomyelinating leukodystrophy include use of serial MR imaging to establish and monitor hypomyelination, molecular diagnostics to determine a specific etiology, and, equally important, careful attention to neurologic complications over time. Emerging research in oligodendrocyte biology and neuroradiology with bedside applications may result in the possibility of clinical trials in the near term, yet there are significant gaps in knowledge in disease classification, characterization and outcome measures in this group of disorders. Here we review the biological background of myelination, the clinical and genetic variability in hypomyelinating leukodystrophies, and the insights that can be obtained from current MRI techniques. In addition, we discuss ongoing research approaches to define potential outcome markers for future clinical trials. ANN NEUROL 2014. © 2014 American Neurological Association.

DOI10.1002/ana.24194
Alternate JournalAnn. Neurol.
PubMed ID24916848