Leukodystrophies: Five new things

Marjo S. Van Der Knaap*, Nicole I. Wolf, Vivi M. Heine

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)506-514
Number of pages9
JournalNeurology: Clinical Practice
Volume6
Issue number6
DOIs
Publication statusPublished - 1 Dec 2016

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