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Keyword - Neuronal ceroid lipofuscinosis (KW-0525)

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Broader

Definition

Protein which, if defective, causes neuronal ceroid lipofuscinosis, a group of neurodegenerative, lysosome storage disorders characterized by intracellular accumulation of autofluorescent wax-like lipid materials in brain and other tissues. Neuronal ceroid lipofuscinoses are associated with variable yet progressive symptoms including seizures, dementia, visual loss, and/or cerebral atrophy.

Synonyms

  • CLN
  • NCL

Category

Disease

Graphical

NeurodegenerationDiseaseNeuronal ceroid lipofuscinosis
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