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Related Experiment Video

Updated: May 24, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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Lysosomal disorders associated with leukoencephalopathy.

Deborah L Renaud1

  • 1Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN 55901, USA. renaud.deborah@mayo.edu

Seminars in Neurology
|March 17, 2012
PubMed
Summary

Lysosomal storage disorders, beyond Metachromatic leukodystrophy and Krabbe disease, can cause white matter changes. This review details conditions associated with hypomyelination in these rare genetic diseases.

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Last Updated: May 24, 2026

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07:45

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Metachromatic leukodystrophy and Krabbe disease are well-known leukodystrophies.
  • White matter abnormalities are observed in various lysosomal storage disorders (LSDs).

Purpose of the Study:

  • To summarize LSDs associated with white matter changes.
  • To review LSDs specifically linked to hypomyelination.

Main Methods:

  • Literature review of lysosomal storage disorders.
  • Analysis of studies reporting white matter abnormalities in LSDs.
  • Focus on conditions with hypomyelination.

Main Results:

  • Several LSDs beyond the common ones exhibit white matter changes.
  • Specific lysosomal storage disorders are detailed in relation to hypomyelination.

Conclusions:

  • Lysosomal storage disorders represent a broader spectrum of diseases causing white matter abnormalities.
  • Understanding these associations is crucial for diagnosis and management of leukodystrophies.