CNS dysfunction

Last reviewed 01/2018

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