Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Selected leukodystrophies

J M Powers1, A Rubio

  • 1Department of Pathology and Laboratory Medicine, University of Rochester Medicine Center, NY 14642, USA.

Seminars in Pediatric Neurology
|September 1, 1995
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Imaging a terahertz superfluid plasmon in a two-dimensional superconductor.

Nature·2026
Same author

Exploring the pangenome of Mycoplasma hyorhinis in search of potential virulence markers.

Scientific reports·2025
Same author

Superstability of micrometre jets surrounded by a polymeric shell.

Journal of applied crystallography·2025
Same author

Coastal current convergence structures in the Bay of Biscay from optimized high-frequency radar and satellite data.

The Science of the total environment·2024
Same author

Ultrafast electron localization and screening in a transition metal dichalcogenide.

Proceedings of the National Academy of Sciences of the United States of America·2023
Same author

Negative refraction in hyperbolic hetero-bicrystals.

Science (New York, N.Y.)·2023
Same journal

Concussion in contact sport: risks, detection, & prevention.

Seminars in pediatric neurology·2026
Same journal

A multidisciplinary, symptom-targeted approach to rehabilitation in pediatric concussion.

Seminars in pediatric neurology·2026
Same journal

Pediatric concussion beyond sports: Falls, play, and everyday activities.

Seminars in pediatric neurology·2026
Same journal

Return-to-school protocols in pediatric concussion care.

Seminars in pediatric neurology·2026
Same journal

Improving concussion recognition in youth sports: the role of parents, coaches, and community education.

Seminars in pediatric neurology·2026
Same journal

Concussion management, rehabilitation, and societal impact.

Seminars in pediatric neurology·2026
See all related articles

This review covers major leukodystrophies, detailing their imaging, genetics, and pathogenesis. It highlights current understanding and potential future therapies for these rare neurological disorders.

Area of Science:

  • Neurology
  • Genetics
  • Pediatric Medicine

Background:

  • Leukodystrophies are a group of rare inherited neurological disorders.
  • These conditions affect the white matter of the brain, impacting development and function.
  • Major types include adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe disease, Pelizaeus-Merzbacher disease, and Canavan disease.

Purpose of the Study:

  • To provide a comprehensive review of the clinicopathologic profiles of major leukodystrophies.
  • To emphasize distinctive imaging characteristics, recent molecular advances, and pathogeneses.
  • To discuss potential therapeutic strategies for these debilitating diseases.

Main Methods:

  • Literature review of clinicopathologic profiles.
  • Analysis of distinctive imaging characteristics.

Related Experiment Videos

  • Synthesis of molecular advances and pathogenetic mechanisms.
  • Exploration of current and emerging therapeutic approaches.

    • Main Results:

    • Detailed descriptions of the clinical and pathological features of five major leukodystrophies.
    • Identification of key diagnostic imaging findings for each condition.
    • Summary of genetic mutations and underlying pathobiological mechanisms.
    • Overview of therapeutic options, including supportive care and experimental treatments.

    Conclusions:

    • Understanding the distinct clinicopathologic features is crucial for accurate diagnosis.
    • Molecular advances are improving our grasp of leukodystrophy pathogenesis.
    • Targeted therapies hold promise for future treatment of these leukodystrophies.