The neuronal ceroid lipofuscinoses (NCLs), are a group of autosomal recessive lysosomal storage disorders that are characterised by neurodegeneration, progressive motor and cognitive decline, motor impairment, and progressive myoclonic epilepsy, ataxia, loss of vision, seizures and premature death. These are genetic diseases associated with abnormal accumulation of auto-fluorescence lipopigments in various cells. The prevalence of these groups of diseases is about 1:10,000 and 1:12,500. NCLs are clinically classified into four major types based on the age of onset of the disease and are currently classified into 14 types based on associated genes. To date, pathogenic variants in more than 13 genes have been associated with NCLs.
Today, the combination of next-generation sequencing and bioinformatics has revolutionized the field of medical genetics allowing us to identify rare pathogenic variants in known and novel genes. This Research Topic aims to bring together knowledge and provide an up to date high impact on clinical and molecular translational research in NCLs.
Original Research is of interest, but we also welcome comprehensive or mini-review articles, method papers, case reports (with respect to the scope of the journal) and clinical trial results on a range, but not limited, of topics related to genetics, epidemiology, epigenetics, transcriptomis, proteomics, methylomics and other omics in humans, cell and animal models.
The neuronal ceroid lipofuscinoses (NCLs), are a group of autosomal recessive lysosomal storage disorders that are characterised by neurodegeneration, progressive motor and cognitive decline, motor impairment, and progressive myoclonic epilepsy, ataxia, loss of vision, seizures and premature death. These are genetic diseases associated with abnormal accumulation of auto-fluorescence lipopigments in various cells. The prevalence of these groups of diseases is about 1:10,000 and 1:12,500. NCLs are clinically classified into four major types based on the age of onset of the disease and are currently classified into 14 types based on associated genes. To date, pathogenic variants in more than 13 genes have been associated with NCLs.
Today, the combination of next-generation sequencing and bioinformatics has revolutionized the field of medical genetics allowing us to identify rare pathogenic variants in known and novel genes. This Research Topic aims to bring together knowledge and provide an up to date high impact on clinical and molecular translational research in NCLs.
Original Research is of interest, but we also welcome comprehensive or mini-review articles, method papers, case reports (with respect to the scope of the journal) and clinical trial results on a range, but not limited, of topics related to genetics, epidemiology, epigenetics, transcriptomis, proteomics, methylomics and other omics in humans, cell and animal models.
