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Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for Therapy

1 Feb 2025

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by excessive accumulation of lysosomal lipofuscin. Thirteen subtypes of NCL have been identified, each associated with distinct genes encoding various transmembrane proteins, secretory proteins, or lysosomal enzymes. Clinically, NCL manifests in infants through vision impairment, motor and cognitive...

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PMID: 39925015
DOI: 10.1111/cns.70261

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