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Hypomyelinating leukodystrophies: Translational research progress and prospects
Author(s) -
Pouwels Petra J. W.,
Vanderver Adeline,
Bernard Genevieve,
Wolf Nicole I.,
DrehaKulczewksi Steffi F.,
Deoni Sean C. L.,
Bertini Enrico,
Kohlschütter Alfried,
Richardson William,
ffrenchConstant Charles,
Köhler Wolfgang,
Rowitch David,
Barkovich A. James
Publication year - 2014
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24194
Subject(s) - leukodystrophy , neuroscience , clinical trial , translational research , medicine , magnetic resonance imaging , neuroimaging , disease , neurology , bioinformatics , intensive care medicine , pathology , psychology , biology , radiology
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 magnetic resonance imaging (MRI) to establish and monitor hypomyelination, molecular diagnostics to determine a specific etiology, and equally importantly, 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;76:5–19