ArticleJournal of paediatrics and child health2021
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Article in Journal of paediatrics and child health, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Psychiatric manifestations in Neuronal ceroid lipofuscinoses.Orphanet journal of rare diseases · 2026Pooled it
- A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8.Brain pathology (Zurich, Switzerland) · 2026Article
- Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.Journal of inherited metabolic disease · 2025Article
- A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.Arquivos de neuro-psiquiatria · 2024Article
- Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.Molecular genetics and metabolism reports · 2024Article
- Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group.Arquivos de neuro-psiquiatria · 2023Article
- Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.Brain sciences · 2023Article
- Visual perception and macular integrity in non-classical CLN2 disease.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Observational
- Identification of aJournal of clinical medicine · 2022Article
- Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.Frontiers in neurology · 2022Review
- Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials.Frontiers in neurology · 2022Review
- Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.Frontiers in neurology · 2022Review
- Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.Life (Basel, Switzerland) · 2021Article
- A diagnostic confidence scheme for CLN3 disease.Journal of inherited metabolic disease · 2021Observational
- "Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series".Molecular genetics and metabolism reports · 2021Article
- Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
16 authors at 13 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimNeuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological functions commonly occurring in children aged 2-4 years and culminating in early death. Atypical cases associated with earlier or later symptom onset, or even protracted course, have already been reported. Such variable manifestations may constitute an additional challenge to early diagnosis and initiation of appropriate treatment. The present work aimed to analyse clinical data from a cohort of Latin American CLN2 patients with atypical phenotypes.
methodsExperts in inborn errors of metabolism from Latin America selected patients from their centres who were deemed by the clinicians to have atypical forms of CLN2, according to the current literature on this topic and their practical experience. Clinical and genetic data from the medical records were retrospectively revised. All cases were presented and analysed by these experts at an Advisory Board Meeting in São Paulo, Brazil, in October 2018.
resultsSeizures, language abnormalities and behavioural disorders were found as the first manifestations, appearing at the median age of 6 years, an older age than classically described for the late infantile form. Three novel mutations were also identified.
conclusionOur findings reinforce the inclusion of CLN2 in the differential diagnosis of children presenting with seizures, behavioural disorders and language abnormalities. Early diagnosis will allow early initiation of specific therapy.
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