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CNS dysfunction

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

There are two main pathogenetic mechanisms for central nervous system dysfunction in lysosomal disease:

  • leukodystrophy:
    • lysosomal dysfunction causes progressve demyelination
    • may result in mixed upper and lower motor neurone features
    • aggresive with dementia and death by the fourth year

  • direct CNS storage:
    • less aggresive course

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