Journal
ANNALS OF NEUROLOGY
Volume 76, Issue 1, Pages 5-19Publisher
WILEY
DOI: 10.1002/ana.24194
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Funding
- Caian Institute in Health Research
- Foundation for the Leukodystrophies
- Dorothea Schloezer Program of University of Gottingen, Gottingen, Germany
- LeukoTreat project of the European Commission
- Friends of the Children's Clinic Universitats-Klinikum Eppendorf (UKE)
- European Leukodystrophies Association
- Biotechnology and Biological Sciences Research Council [BB/C007425/1, BB/E021190/1, BB/L00402X/1] Funding Source: researchfish
- Medical Research Council [G0601744, G0300336] Funding Source: researchfish
- BBSRC [BB/E021190/1, BB/L00402X/1] Funding Source: UKRI
- MRC [G0601744, G0300336] Funding Source: UKRI
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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.
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