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The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses

18 Oct 2021

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the first causative genes, more than 530 mutations have been identified across 13 genes in cases diagnosed with NCL. These genes encode a variety of proteins whose...

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PMID: 34733232
DOI: 10.3389/fneur.2021.754045

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