ReviewBrain pathology (Zurich, Switzerland)2004
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Review in Brain pathology (Zurich, Switzerland), 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed.
- Dysfunction of GABAergic interneurons underlies altered neural network oscillations associated with epileptiform activity in PPT1-deficient mice.Translational psychiatry · 2026Article
- Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease.Nucleic acids research · 2025Article
- Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy.Frontiers in genetics · 2025Article
- Real-world clinical outcomes of patients with CLN2 disease treated with cerliponase alfa.Frontiers in neurology · 2025Article
- Frameshift Variant inGenes · 2024Article
- Phenotypic variability observed in a Chinese patient cohort with biallelic variants in theMolecular vision · 2024Article
- The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.Neurobiology of disease · 2023Review
- Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.Human genetics · 2023Article
- Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.Investigative ophthalmology & visual science · 2023Article
- The LINCE Project: A Pathway for Diagnosing NCL2 Disease.Frontiers in pediatrics · 2022Article
- An Unusual Presentation of CLN3-Associated Batten Disease With Classic Histopathologic and Ultrastructural Findings.Journal of neuropathology and experimental neurology · 2021Article
- Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.Ophthalmology. Retina · 2020Article
- Article
- A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.PloS one · 2017Article
- Plasma biomarkers for neuronal ceroid lipofuscinosis.The FEBS journal · 2016Article
- The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.Human molecular genetics · 2013Article
- Evaluation of neurodegeneration in a mouse model of infantile batten disease by magnetic resonance imaging and magnetic resonance spectroscopy.Neuro-degenerative diseases · 2012Article
- Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.Molecular genetics and metabolism · 2011Article
- A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.PLoS genetics · 2011Article
- Immunosuppression alters disease severity in juvenile Batten disease mice.Journal of neuroimmunology · 2011Article
Corrections and comments
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1 author.
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No grant is acknowledged in the PubMed record.
Abstract
The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited severe neurodegenerative disorders primarily affecting children. They are characterised by the accumulation of autofluorescent storage material in many cells. Children suffer from visual failure, seizures, progressive physical and mental decline and premature death, associated with the loss of cortical neurones. Six genes have been identified that cause human NCL (CLN1, CLN2, CLN3, CLN5, CLN6, CLN8), and approximately 150 mutations have been described. The majority of mutations result in a characteristic disease course for each gene. However, mutations associated with later disease onset or a more protracted disease course have also been described. At least seven common mutations exist, either with a world-wide distribution or associated with families from specific countries. All mutations are described in the NCL Mutation Database (http://www.uc.ac.uk/ncl).
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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.