Neuronal Ceroid-Lipofuscinoses
Recent clinical, regulatory, research and industry developments relating to this disease.
Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.
CLN3 deficiency leads to neurological and metabolic perturbations during early development.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes8
- Neuronal Ceroid-Lipofuscinoses2
- Homeostasis1
- Induced Pluripotent Stem Cells1
- Lipoylation1
- Mutagenesis, Insertional1
- Precision Medicine1
- Receptors, GABA-A1
- Synaptic Transmission1
Leading journals4
- CNS neuroscience & therapeutics1
- Life science alliance1
- The New England journal of medicine1
- Translational psychiatry1
Leading researchers8
- Agrawal PB1
- Armant M1
- Augustine EF1
- Barton B1
- Beggs AH1
- Belur NR1
- Berde CB1
- Berry ER1
Affiliations (unnormalised)6
- Basic Medical College1
- Children's Hospital1
- Department of Preclinical Sciences and Pathology1
- He'nan International Joint Laboratory for Non-invasive Neural Modulation1
- Imperial College Faculty of Medicine1
- Institut d'Investigació Sanitària Pere Virgili1
Reference
Authoritative identity, definition & identifiers.
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.