CLN6‐related continuum phenotype caused by aberrant splicing [PDF]
Epilepsia OpenNeuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy.
Federica Invernizzi +16 more
doaj +8 more sources
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation.
Corina-Marcela Rus +15 more
doaj +6 more sources
CLN6 deficiency causes selective changes in the lysosomal protein composition [PDF]
Proteomics, 2021 Abstract Neuronal ceroid lipofuscinoses (NCLs) collectively account for the highest prevalence of inherited neurodegenerative diseases in childhood. This disease group is classified by the deposition of similar autofluorescence storage material in lysosomes that is accompanied by seizures, blindness and premature ...
Markus Damme +2 more
exaly +5 more sources
An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease [PDF]
Journal of Neurochemistry, 2021 AbstractNeuronal ceroid lipofuscinoses (NCLs) are a group of inherited childhood neurodegenerative disorders. In addition to the accumulation of auto‐fluorescent storage material in lysosomes, NCLs are largely characterised by region‐specific neuroinflammation that can predict neuron loss.
Hannah L Best +2 more
exaly +5 more sources
Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease [PDF]
Scientific Reports, 2023 Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive disease primarily affecting the nervous system in children. It is caused by a pathogenic mutation in the CLN6 gene for which no therapy is available.
Corina-Marcela Rus +9 more
doaj +2 more sources
Expanded Phenotype of the Cln6nclf Mouse Model [PDF]
CellsNeuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurogenetic disorders caused by mutations in 14 different genes. CLN6 disease manifests as variant late-infantile NCL (vLINCL) or as an adult variant.
Victoria Chaoul +7 more
doaj +2 more sources
Weak evidence for a relation between bipolar disorder and heterozygous ZNF92 and CLN6 variants [PDF]
Brazilian Journal of Psychiatry, 2023 Josef Finsterer +3 more
doaj +5 more sources
A Flupirtine Benzyl Carbamate Improves Neurocognitive Deficits and Molecular Pathology in the Cln6nclf Mouse [PDF]
CellsNeuronal ceroid lipofuscinosis type 6 (CLN6) is a fatal, autosomal recessive neurodegenerative disorder characterized by cognitive/motor impairment, vision loss, as well as neuronal loss and gliosis in the brain, and premature death.
Victoria Chaoul +11 more
doaj +2 more sources
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder [PDF]
Brazilian Journal of Psychiatry, 2023 Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this
Flavia Privitera +12 more
doaj +2 more sources
Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report [PDF]
Clinical Parkinsonism & Related DisordersNeuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages.
Yubo Hu +5 more
doaj +2 more sources