Phenotypic and genotypic characterization of Palestinian patients with neuronal ceroid lipofuscinosis: A report of 5 new individuals and novel pathogenic variant

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dc.contributor.authorMalik Al-Tubjah
dc.contributor.authorHuthaifa Haj Ahmad
dc.contributor.authorFida’ Al-Hijawi
dc.contributor.authorMotee Ashhab
dc.contributor.authorReham Khalaf-Nazzal
dc.date.accessioned2024-09-03T11:02:02Z
dc.date.available2024-09-03T11:02:02Z
dc.date.issued2024-04-01
dc.description.abstractNeuronal 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.
dc.identifier.urihttps://dspace.alquds.edu/handle/20.500.12213/9361
dc.language.isoen
dc.publisherDeanship of Research/ Al-Quds University
dc.titlePhenotypic and genotypic characterization of Palestinian patients with neuronal ceroid lipofuscinosis: A report of 5 new individuals and novel pathogenic variant
dc.typeArticle
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