ArticleBrain pathology (Zurich, Switzerland)1998
The neuronal ceroid-lipofuscinoses. Recent advances.
Article in Brain pathology (Zurich, Switzerland), 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 59 citations in OpenAlex.
- Case report: Analysis of novel compound heterozygousFrontiers in genetics · 2022Article
- Article
- Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.Journal of inherited metabolic disease · 2011Article
- A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses.Journal of biomolecular NMR · 2011Article
- Retinitis pigmentosa, pigmentary retinopathies, and neurologic diseases.Current neurology and neuroscience reports · 2006Review
- Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation.Brain pathology (Zurich, Switzerland) · 2004Article
- Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis.The Biochemical journal · 2001Article
- A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.The EMBO journal · 2000Article
- Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity.Journal of inherited metabolic disease · 2000Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neuronal ceroid lipofuscinoses (NCLs) represent a group of neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the accumulation of an autofluorescent lipopigment in neurons and other cells. The main childhood subtypes are infantile (INCL;CLN1), classical late infantile (LINCL;CLN2) and juvenile NCL (JNCL;CLN3), distinguished on the basis of age of onset, clinical course and ultrastructural morphology, and recently genetic analysis. In addition several variant forms of the disease complex have been described as well as a rare adult onset form. Advances in both genetics and biochemistry have led to the identification of the genes for the three main subtypes of childhood NCL and their corresponding protein products and to mapping of two additional genes for two variant forms. The disease causing genes in both INCL and classical LINCL have been shown to encode lysosomal enzymes whilst the JNCL gene codes for a protein whose function is as yet unknown.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.