ArticleOrphanet journal of rare diseases2013
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.Orphanet journal of rare diseases · 2021Pooled it
- Characterization of a novel homozygous CTSD variant causing adult-onset neuronal ceroid lipofuscinosis type 10: a case report.Journal of neurology · 2026Article
- Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses.Developmental medicine and child neurology · 2026Article
- CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease.Molecular psychiatry · 2025Article
- Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.Molecular biology reports · 2025Article
- GABATranslational psychiatry · 2024Article
- Cone-Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report.Clinical case reports · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Article
- 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
- Two compound heterozygous variants in theFrontiers in pediatrics · 2024Article
- Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease.Scientific reports · 2023Article
- Curated incidence of lysosomal storage diseases from the Taiwan Biobank.NPJ genomic medicine · 2023Article
- Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Identification of aJournal of clinical medicine · 2022Article
- Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.Orphanet journal of rare diseases · 2022Article
- AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease.The Journal of clinical investigation · 2022Article
- Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.Frontiers in neurology · 2022Review
- Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.Molecular genetics & genomic medicine · 2020Article
- Review
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14 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundTo review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations.
methodsA cohort of NCL patients was recruited through CLNet, a nationwide network of child neurology units. Diagnosis was based on clinical and pathological criteria following ultrastructural investigation of peripheral tissues. Molecular confirmation was obtained during the diagnostic procedure or, when possible, retrospectively.
resultsOne hundred eighty-three NCL patients from 156 families were recruited between 1966 and 2010; 124 of these patients (from 88 families) were tested for known NCL genes, with 9.7% of the patients in this sample having not a genetic diagnosis. Late infantile onset NCL (LINCL) accounted for 75.8% of molecularly confirmed cases, the most frequent form being secondary to mutations in CLN2 (23.5%). Juvenile onset NCL patients accounted for 17.7% of this cohort, a smaller proportion than found in other European countries. Gene mutations predicted severe protein alterations in 65.5% of the CLN2 and 78.6% of the CLN7 cases. An incidence rate of 0.98/100,000 live births was found in 69 NCL patients born between 1992 and 2004, predicting 5 new cases a year. Prevalence was 1.2/1,000,000.
conclusionsDescriptive epidemiology data indicate a lower incidence of NCLs in Italy as compared to other European countries. A relatively high number of private mutations affecting all NCL genes might explain the genetic heterogeneity. Specific gene mutations were associated with severe clinical courses in selected NCL forms only.
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