ArticleJournal of inherited metabolic disease2011
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Article in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Psychiatric manifestations in Neuronal ceroid lipofuscinoses.Orphanet journal of rare diseases · 2026Pooled it
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.Orphanet journal of rare diseases · 2026Guideline
- Longitudinal deep multi-omics profiling in a CLN3Communications medicine · 2026Article
- The parent and family impact of CLN3 disease: an observational survey-based study.Orphanet journal of rare diseases · 2024Observational
- Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons.Disease models & mechanisms · 2022Article
- Review
- Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.Molecular genetics & genomic medicine · 2020Article
- Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.Acta neuropathologica communications · 2019Article
- The CLN3 gene and protein: What we know.Molecular genetics & genomic medicine · 2019Review
- High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.JIMD reports · 2019Article
- Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.Expert opinion on orphan drugs · 2019Article
- Can psychiatric childhood disorders be due to inborn errors of metabolism?European child & adolescent psychiatry · 2017Review
- Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).Annals of the New York Academy of Sciences · 2016Review
- The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.Human molecular genetics · 2015Article
- CLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent events.PloS one · 2014Article
- Early-onset Lafora body disease.Brain : a journal of neurology · 2012Article
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundJuvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecular studies in 24 patients with JNCL collected from 1975 to 2010 with the aim of assessing the natural history of the disorder and phenotype/genotype correlations. PATIENTS AND
methodsPatients were classified into the groups of vJNCL with mutations in the CLN1 gene and/or granular osmiophilic deposit (GROD) inclusion bodies (n = 11) and classic JNCL (cJNCL) with mutations in the CLN3 gene and/or fingerprint (FP) profiles (n = 13). Psychomotor impairment included regression of acquired skills, cognitive decline, and clinical manifestations of the disease. We used Kaplan-Meier analyses to estimate the age of onset of psychomotor impairment.
resultsPatients with vJNCL showed learning delay at an earlier age (median 4 years, 95% confidence interval [CI] 3.1-4.8) than those in the cJNCL group (median 8 years, 95% CI 6.2-9.7) (P = 0.001) and regression of acquired skills at a younger age. Patients with vJNCL showed a more severe and progressive clinical course than those with cJNCL. There may be a Gypsy ancestry for V181L missense mutation in the CLN1 gene.
conclusionsThe rate of disease progression may be useful to diagnose vJNCL or cJNCL, which should be confirmed by molecular studies in CLN1/CLN3 genes. Further studies of genotype/phenotype correlation will be helpful for understanding the pathogenesis of this disease.
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