Neuronal ceroid lipofuscinosis (NCL) is composed of a group of inherited neurodegenerative diseases, with the hallmark of lipofuscin deposit (a mixture of lipids and proteins with metal materials) inside the lysosomal lumen, which typically emits auto-fluorescence. Adult-onset NCL (ANCL) has been reported to be associated with a mutation in the DNAJC5 gene, including L115R, L116Δ, and the recently identified C124_C133dup mutation. In this study, we reported a novel C128Y mutation in a young Chinese female with ANCL, and this novel mutation caused abnormal palmitoylation and triggered lipofuscin deposits.
Keywords: adult-onset neuronal ceroid lipofuscinosis; cognitive decline; cysteine string protein α; lysosome; neurodegenerative disease.
Copyright © 2022 Huang, Zhang, Li, Dammer, Hu, Xie, Tang, Li, Wang, Che, Wang and Ren.