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Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

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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.

Neurology. Clinical Practice
|June 1, 2018
PubMed
Summary
This summary is machine-generated.

Advances in genetic sequencing and therapies are transforming the outlook for leukodystrophies, a group of rare genetic white matter disorders. Previously considered untreatable, new insights reveal potential for personalized treatments and spontaneous improvement.

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Leukodystrophies are rare genetic disorders primarily affecting the central nervous system (CNS) white matter.
  • Historically, these conditions carried poor prognoses, often associated with progressive myelin loss and limited treatment options.

Purpose of the Study:

  • To review recent technological advancements revolutionizing the understanding and treatment of leukodystrophies.
  • To highlight the shift from a paradigm of "much unknown" and "nothing can be done" to one of active research and therapeutic development.

Main Methods:

  • Utilizing next-generation sequencing (NGS) for whole-exome and whole-genome sequencing to identify causative genes in ultra-rare disorders.
  • Analyzing emerging knowledge of white matter proteins to elucidate disease pathophysiology.
  • Evaluating the progress of stem cell and gene therapies for personalized treatment approaches.

Main Results:

  • NGS has enabled precise disease definition and gene identification, even for extremely rare leukodystrophies.
  • New discoveries regarding white matter proteins are significantly advancing the understanding of CNS white matter physiology and disease mechanisms.
  • Stem cell and gene therapies are rapidly evolving, offering personalized treatment strategies, with multimodal approaches showing significant promise.

Conclusions:

  • Technological progress is fundamentally changing the leukodystrophy landscape, transforming the unknown into the known.
  • Previously considered irreversible, some leukodystrophies are now recognized as treatable, with some cases showing spontaneous improvement.
  • The field is moving towards personalized and potentially curative therapies for leukodystrophy patients.