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Rare and hereditary disorders
Batten disease
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Publications and studies (974)
- Thapsigargin-induced autophagic flux impairment and inflammation are potentiated by CLN3 deficiency and alleviated by 5-aminoimidazole-4-carboxamide ribonucleoside (AICAR) in human ARPE-19 cells. (2026/09/03) ♡
- CLN5 disease-causing mutations impact lysosomal biology by affecting intracellular degradation and protein trafficking. (2026/08/01) ♡
- Trends in Colorectal Dysplasia in Patients With IBD. (2026/08/01) ♡
- Progressive Orexin Deficiency and Age-Dependent Glial and Axonal Biomarkers in juvenile neuronal ceroid lipofuscinosis type 3 (CLN3) Disease. (2026/08/01) ♡
- High-resolution promoter interaction analysis implicates genes involved in activation of type 3 innate lymphoid cells in immune disease risk. (2026/08/01) ♡
- Atlas of lysosomal aging reveals a metabolite signature shared with lysosomal storage disorders. (2026/07/30) ♡
- Sex-dependent clinical divergence in adult-onset CLN6-Batten disease: a case study of a Chinese brother-sister pair. (2026/07/29) ♡
- From larynx to limbs-neuronal ceroid lipofuscinoses presenting with a predominant dystonia phenotype in siblings. (2026/07/27) ♡
- The Case for Master Protocols for Rare Neurological Diseases. (2026/07/21) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Chronic oral cannabidiol delays seizure onset and reduces seizure burden in a mouse model of CLN2 disease. (2026/07/20) ♡
- Morphometric Brain Changes in a Merino Sheep (Ovis aries) CLN6 Neuronal Ceroid Lipofuscinosis Model. (2026/07/10) ♡
- Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis. (2026/07/08) ♡
- A human lysosomal storage disorder toolkit for decoding proteome landscapes in cortical-like and dopaminergic-like induced neurons. (2026/07/07) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls. (2026/06/30) ♡
- Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina. (2026/06/24) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Psychiatric manifestations in Neuronal ceroid lipofuscinoses. (2026/06/15) ♡
- Clinical Symptoms in Late Infantile and Juvenile Onset Neuronal Ceroid Lipofuscinosis Type 7 (CLN7 Disease). (2026/06/15) ♡
- Exploratory Analysis of Neuroimaging and Molecular Findings in a Cohort of Neuronal Ceroid Lipofuscinosis: a Descriptive study. (2026/06/12) ♡
- Behavioral and emotional symptoms and quality of life in a national sample of individuals with CLN3 Batten disease. (2026/06/11) ♡
- Functional ultrasound imaging reveals pathway-specific visual system reorganization in young Cln3 -/- mice. (2026/06/09) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Distinct Auditory Thalamocortical Pathologies Underlie Emerging Neurophysiological Dysfunction in a Cln3 Mouse Model of Batten Disease. (2026/06/04) ♡
- Monocyte metabolic plasticity and cytokine production differentiate latent TB infection from active disease. (2026/06/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Lysosomal storage, mitochondrial pathology, and autophagy in knockout of tripeptidyl peptidase 1 in human neuroblastoma cells in vitro. (2026/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report. (2026/05/24) ♡
- Reversible synaptic deficits in early-stage batten disease. (2026/05/20) ♡
- Modeling CLN3 Batten disease in astrocytes reveals alterations in mitochondria homeostasis, fatty acid metabolism and oxidative stress response. (2026/05/13) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. AI-driven insights into protein misfolding and innate immunity in neurodegenerative diseases. (2026/05/12) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The changing landscape of bluetongue in northern Europe. (2026/05/05) ♡
- Lipofuscin accumulation in aging and CLN1 is associated with deficient de-S-acylation, lyso-mitochondrial dysfunction, and lipid dyshomeostasis. (2026/05/03) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease. (2026/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biologics Before Surgery Are Not Associated With Complications After Surgery for IBD: A National Surgery Quality Improvement Program IBD Collaborative Causal Inference Analysis. (2026/05/01) ♡
- Mapping Clinical Progression to Brain Atrophy in CLN2 Patients Under Cerliponase Alfa Treatment: A Prospective Neuroimaging Study. (2026/05/01) ♡
- PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. (2026/04/28) ♡
- Antibiotic treatment reveals the contributions of the gut microbiome to CLN2 disease in the central and enteric nervous system. (2026/04/25) ♡
- [Clinical features of 13 children with neuronal ceroid lipofuscinosis type 2]. (2026/04/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neuronal Ceroid Lipofuscinosis-like Disorder in a Dachshund with Sequence Variants in Lysosome-Related Genes. (2026/04/15) ♡
- Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease. (2026/04/03) ♡
- Characterization of African swine fever outbreaks in Hong Kong SAR, winter 2023 to 2024. (2026/04/02) ♡
- Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes. (2026/04/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Systemic AAV9 Gene Therapy Mitigates Neuromuscular Junction Degeneration and Muscle Atrophy in a Mouse Model of CLN1 Disease. (2026/03/28) ♡
- Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease. (2026/03/21) ♡
- TOR-dependent regulation of the yeast homolog of the juvenile Batten Disease-associated gene CLN3. (2026/03/11) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology. (2026/03/10) ♡
- CLN3 mediates chloride efflux from lysosomes. (2026/03/04) ♡
- Longitudinal deep multi-omics profiling in a CLN3(Δex7/8) minipig model identifies biomarker signatures of disease. (2026/03/03) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Treatment of Neuronal Ceroid Lipofuscinosis Type 2 with Cerliponase Alfa: A Systematic Review and Single-Arm Meta-Analysis of Two Studies. (2026/03/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration. (2026/03/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. How do we approach integrating digital endpoint studies into health technology assessment? (2026/03/01) ♡
- Enzyme replacement therapy for CLN1 batten disease that crosses the blood-brain-barrier. (2026/03/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Palmitoyl-protein thioesterase-1 in health and disease. (2026/03/01) ♡
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