Neuroglia in leukodystrophies

Elly M Hol, Werner Dykstra, Juliette Chevalier, Eloy Cuadrado, Marianna Bugiani, Eleonora Aronica, Alexei Verkhratsky*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Abstract

Leukodystrophies are a heterogeneous group of rare genetic neurologic disorders characterized by white matter degeneration resulting from mutations affecting glial cells. This review focuses on the primary subtypes-astroglial, oligodendroglial, and microglial leukodystrophies-offering a detailed description of their neuropathologic features and clinical manifestations. It delves into key aspects of the pathogenesis, emphasizing the distinct cellular mechanisms that drive white matter damage. Advances in disease modeling, including the development of animal models with pathologic gene expressions and patient-derived iPS-cell models, have significantly enhanced our understanding of these rare disorders. Insights into the roles of different glial cell types highlight the complexity of leukodystrophies and provide a foundation for the development of targeted therapeutic strategies.

Original languageEnglish
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier
Chapter10
Pages159-175
Number of pages17
ISBN (Print)978-0-443-19102-2
DOIs
Publication statusPublished - 2025

Publication series

NameHandbook of Clinical Neurology
PublisherElsevier
Volume210
ISSN (Print)0072-9752

Keywords

  • Aicardi–Goutières syndrome
  • Alexander disease
  • Astroglial leukodystrophies
  • Canavan disease
  • Krabbe disease
  • Microglial leukodystrophies
  • Nasu–Hakola disease
  • Oligodendroglial leukodystrophies
  • Pelizaeus–Merzbacher disease
  • Vanishing white matter disease

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