ArticleNeurology2015
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Article in Neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03285425 (Natural History Study of Batten's CLN6 Disease), which is not on this map. Cited by 20 papers.
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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.
Natural History Study of Batten's CLN6 Disease
Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- A Flupirtine Benzyl Carbamate Improves Neurocognitive Deficits and Molecular Pathology in theCells · 2026Article
- Expanded Phenotype of theCells · 2025Article
- Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.CNS neuroscience & therapeutics · 2025Review
- CLN6-related continuum phenotype caused by aberrant splicing.Epilepsia open · 2025Article
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins.Clinical neurophysiology practice · 2024Review
- The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.Neurobiology of disease · 2023Review
- Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.International journal of molecular sciences · 2022Review
- Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis.BMJ case reports · 2022Article
- Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses.Frontiers in neurology · 2022Review
- Myoclonus-Ataxia Syndromes: A Diagnostic Approach.Movement disorders clinical practice · 2021Review
- Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.Epilepsia · 2020Article
- Moyamoya and progressive myoclonic epilepsy secondary toEpilepsy & behavior reports · 2020Article
- Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Therapeutic landscape for Batten disease: current treatments and future prospects.Nature reviews. Neurology · 2019Review
- Tracking sex-dependent differences in a mouse model of CLN6-Batten disease.Orphanet journal of rare diseases · 2019Article
- Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis.Frontiers in genetics · 2019Article
- Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice.Cerebellum (London, England) · 2018Review
- Article
- The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.Movement disorders clinical practiceArticle
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations.
methodsWe reviewed the features of 11 patients with different ages at onset.
resultsClinical disease onset occurred within the first decade of life in 8 patients and in the second and third decades in 3. All children presented with progressive cognitive regression associated with ataxia and pyramidal and extrapyramidal signs. Recurrent seizures, visual loss, and myoclonus were mostly reported after a delay from onset; 7 children were chairbound and had severe dementia less than 4 years from onset. One child, with onset at 8 years, had a milder course. Three patients with a teenage/adult onset presented with a classic progressive myoclonic epilepsy phenotype that was preceded by learning disability in one. The EEG background was slow close to disease onset in 7 children, and later showed severe attenuation; a photoparoxysmal response (PPR) was present in all. The 3 teenage/adult patients had normal EEG background and an intense PPR. Early attenuation of the electroretinogram was seen only in children with onset younger than 5.5 years. Somatosensory evoked potentials were extremely enlarged in all patients.
conclusionsIn all patients, multifocal myoclonic jerks and seizures were a key feature, but myoclonic seizures were an early and prominent sign in the teenage/adult form only. Conversely, the childhood-onset form was characterized by initial and severe cognitive impairment coupled with electroretinogram and EEG attenuation. Cortical hyperexcitability, shown by the PPR and enlarged somatosensory evoked potentials, was a universal feature.
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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.