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Updated: Feb 9, 2026
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Leukodystrophies: Five new things
Marjo S van der Knaap1, Nicole I Wolf1, Vivi M Heine1
1Department of Child Neurology (MSvdK, NIW, VMH), Amsterdam Neuroscience, VU University Medical Centre, Amsterdam; and Departments of Functional Genomics (MSvdK) and Complex Trait Genetics (VMH), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Purpose Of Review:
Leukodystrophies are genetic disorders primarily and predominantly affecting CNS white matter. They are associated with connotations such as "much unknown," "progressive myelin loss," and "nothing can be done." Recent technological progress is reversing this picture.
Recent Findings:
Next-generation sequencing has created the revolution of whole-exome/genome sequencing, allowing disease definition and gene identification for numerous ultra-rare disorders by focusing on very small groups and individual patients. Knowledge of many new "white matter proteins" is transforming our understanding of white matter physiology and pathophysiology. Regarding therapy, especially stem cell and gene therapy are evolving rapidly, aiming at personalized therapy for a specific patient with a specific disease. Multimodal approaches targeting multiple aspects of the disease hold the highest promise.
Summary:
Technological developments are revolutionizing the leukodystrophy field. Unknown becomes known and untreatable becomes treatable. New insight is that not all leukodystrophies are irreversible and that some improve spontaneously.
