ReviewNature reviews. Neurology2025
Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets.
Review in Nature reviews. Neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Batten disease protein CLN8 enables a non-canonical phospholipid synthesis pathway.Nature cell biology · 2026Article
- Characterizing enteric pathology in MPS IIIA mice suggests disease-specific vulnerability among lysosomal storage disorders.JCI insight · 2026Article
- A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis.Molecular genetics and genomics : MGG · 2026Article
- Article
- Antibiotic treatment reveals the contributions of the gut microbiome to CLN2 disease in the central and enteric nervous system.Scientific reports · 2026Article
- Transcriptomic and proteomic insights into progressive myoclonus epilepsy type 1.Disease models & mechanisms · 2026Article
- Systemic AAV9 Gene Therapy Mitigates Neuromuscular Junction Degeneration and Muscle Atrophy in a Mouse Model of CLN1 Disease.International journal of molecular sciences · 2026Article
- Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.bioRxiv : the preprint server for biology · 2026Article
- Chronic oral cannabidiol delays seizure onset and reduces seizure burden in a mouse model of CLN2 disease.PloS one · 2026Article
- Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 2026Review
- Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 disease.Scientific reports · 2025Article
- Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice.Acta neuropathologica communications · 2025Article
- GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.International journal of molecular sciences · 2025Review
Corrections and comments
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Authors and funding
6 authors.
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Abstract
The neuronal ceroid lipofuscinoses (NCLs), more commonly known as Batten disease, are a group of fatal inherited neurodegenerative lysosomal storage disorders. Each form is caused by mutations in a different gene, resulting in lysosomal dysfunction, which, by largely unknown mechanisms, has a devastating impact on the central nervous system. The NCLs are grouped together owing to their broadly shared clinical presentations and the presence of autofluorescent storage material. Nevertheless, being caused by deficiencies in dissimilar proteins, marked differences are apparent between NCLs in their clinical presentation and pathology. The effects of disease are not confined to neurons and appear unrelated to autofluorescent storage material, with glial cells also affected. The rest of the body is also affected, with life-limiting disease in the bowel and effects on other body systems, which will also require treatment for maximal therapeutic benefit. Since the development of enzyme replacement therapy for CLN2 disease, much has been learnt about the practicalities of its delivery. Considerable progress has also been made in the understanding of NCL cell biology, disease pathogenesis and potential links to other disorders. Here, we highlight these advances and how they inform the ongoing development of therapeutic strategies and their future prospects.
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