Biomedical Sciences

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Phenotypic and genotypic characterization of Palestinian patients with neuronal ceroid lipofuscinosis: A report of 5 new individuals and novel pathogenic variant
(Deanship of Research/ Al-Quds University, 2024-04-01) Malik Al-Tubjah; Huthaifa Haj Ahmad; Fida’ Al-Hijawi; Motee Ashhab; Reham Khalaf-Nazzal
Neuronal ceroid lipofuscinoses (NCLs) are a group of ultrarare inherited neurodegenerative disorders characterized by consistent clinical features and pathophysiology. Pathogenic variants in several genes were established to be causative for NCL. These genes encode various types of proteins, including lysosomal, cytoplasmic, and transmembrane proteins involved in lipid and protein trafficking, endocytosis, and lysosomal transport. Loss of function variants in NCL genes result in the buildup of autofluorescent lipoprotein aggregates, known as ceroid lipofuscin, in neurons and other cells. This accumulation leads to progressive psychomotor decline, visual impairment, and ultimately, premature death.