SynthesisJournal of inherited metabolic disease2018
Timing of cognitive decline in CLN3 disease.
Synthesis in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.Orphanet journal of rare diseases · 2026Guideline
- Evaluating Precision and Responsiveness of MRI-derived Brain Volumetric and Clinical Outcome Measures in CLN3 Disease.medRxiv : the preprint server for health sciences · 2026Article
- Reversible synaptic deficits in early-stage batten disease.Journal of translational medicine · 2026Article
- Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease.Journal of child neurology · 2026Article
- A timeline of symptom onset and disease progression in CLN3 disease.Orphanet journal of rare diseases · 2026Review
- Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study.bioRxiv : the preprint server for biology · 2025Article
- Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom.Orphanet journal of rare diseases · 2025Article
- Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.Journal of inherited metabolic disease · 2025Article
- Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants.Nature medicine · 2024Article
- The parent and family impact of CLN3 disease: an observational survey-based study.Orphanet journal of rare diseases · 2024Observational
- Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN).Journal of neurodevelopmental disorders · 2024Article
- A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes.Disease models & mechanisms · 2023Article
- Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.Nature communications · 2023Article
- Recognition and epileptology of protracted CLN3 disease.Epilepsia · 2023Article
- Etiology of anxious and fearful behavior in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).Frontiers in psychiatry · 2023Article
- Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family.International journal of environmental research and public health · 2022Article
- Use of the Vineland-3, a measure of adaptive functioning, in CLN3.American journal of medical genetics. Part A · 2022Observational
- Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses.Frontiers in neurology · 2022Article
- Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.Frontiers in neurology · 2022Review
- A diagnostic confidence scheme for CLN3 disease.Journal of inherited metabolic disease · 2021Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease.
methodsEarly neurocognitive functioning in CLN3 disease was analyzed using age at onset of visual and cognitive decline and IQ scores from literature-derived patient descriptions, supplemented with IQ scores and school history from a retrospective referral center cohort. We analyzed protracted and classical CLN3 separately and added a control group of patients diagnosed with juvenile onset macular degeneration (early onset Stargardt disease) to control for possible effects of rapid vision loss on neurocognitive functioning.
resultsOnset of cognitive decline at a mean age of 6.8 years (range 2-13 years, n = 19) paralleled onset of visual deterioration at a mean age of 6.4 years (range 4-9 years, n = 81) as supported by an early decline in IQ scores in classical CLN3 disease. Onset and course of vision loss was similar in patients with protracted CLN3. The decreased IQ levels at diagnosis (mean 68.4, range 57-79, n = 9) in the referral cohort were consistently associated with an aberrant early school history contrasting normal school history and cognition in Stargardt disease patients.
conclusionsCognitive dysfunction is universally present around diagnosis in classical CLN3 disease.
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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.