Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis
Neurobiology of Disease, 2008 Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene.
Martin L. Katz +3 more
doaj +1 more source
Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease)
Frontiers in Cell and Developmental Biology, 2022 The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been identified that are each linked
William D. Kim +7 more
doaj +1 more source
Cerolipofuscinose: estudo ultrastrutural de 8 casos.
Acta Médica Portuguesa, 1989 The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type.
C Matias +6 more
doaj +1 more source
Brain gene expression profiles of and deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases [PDF]
, 2008 BackgroundThe neuronal ceroid lipofuscinoses (NCL) are a group of children's inherited neurodegenerative disorders, characterized by blindness, early dementia and pronounced cortical atrophy.
Cooper JD +7 more
core +3 more sources
Clinical, MRI, and Genetic Findings in Batten Disease
Pediatric Neurology Briefs, 1998 The correlation of clinical, MRI and genetic factors in 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis) followed up for 25 years is reported from the Department of Paediatric Neurology, University of Helsinki, Finland, and
J Gordon Millichap
doaj +1 more source
Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis [PDF]
, 2011 Mutations in the cathepsin D (CTSD) gene cause an aggressive neurodegenerative disease (congenital neuronal ceroid lipofuscinosis) that leads to early death. Recent evidence suggests that presynaptic abnormalities play a major role in the pathogenesis of
Andrew Edwards +13 more
core +1 more source
Subdural Effusion and Infantile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2010 During the course of an ongoing NIH clinical study evaluating the benefit of cysteamine and N-acetylcysteine in 9 patients with infantile neuronal ceroid lipofuscinosis (INCL), 4 were found to have subdural fluid collections without mass effect.
J Gordon Millichap
doaj +1 more source
The role of attenuated astrocyte activation in infantile neuronal Ceroid Lipofuscinosis [PDF]
, 2011 Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited neurodegenerative disorder affecting the CNS during infancy. INCL is caused by mutations in the CLN1 gene that leads to a deficiency in the lysosomal hydrolase, palmitoyl protein ...
Macauley, Shannon L +2 more
core +2 more sources
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7
Frontiers in Genetics, 2022 Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 ...
Yimeng Qiao +7 more
doaj +1 more source
Neuronal Ceroid Lipofuscinosis: A Common Pathway? [PDF]
Pediatric Research, 2007 The neuronal ceroid lipofuscinoses are pediatric neurodegenerative diseases with common clinical features. Of the nine clinical variants (CLN1-CLN9), six have been genetically identified. Most variants manifest cell death and dysregulated sphingolipid metabolism, suggesting the proteins defective in these disorders may interact along one pathway.
Dixie-Ann, Persaud-Sawin +5 more
openaire +2 more sources