ReviewFrontiers in neurology2022
Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses.
Review in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Reversible synaptic deficits in early-stage batten disease.Journal of translational medicine · 2026Article
- First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.Clinical case reports · 2026Article
- Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.Epileptic disorders : international epilepsy journal with videotape · 2025Review
- CLN6-related continuum phenotype caused by aberrant splicing.Epilepsia open · 2025Article
- Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.Neurogenetics · 2025Article
- Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.Frontiers in medicine · 2025Article
- Developmental outcome of electroencephalographic findings inFrontiers in cell and developmental biology · 2024Article
- Age-associated sleep spindle characteristics in Duchenne muscular dystrophy.Sleep advances : a journal of the Sleep Research Society · 2024Article
- Teaching NeuroImage: Low-Frequency Photoparoxysmal Response in a Patient With Neuronal Ceroid Lipofuscinosis Type 2.Neurology · 2023Article
- Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder. Common clinical features include epileptic seizures, progressive cognitive and motor decline, and visual failure, which occur over different time courses according to subtypes. During the latest years, many advances have been done in the field of targeted treatments, and in the next future, gene therapies and enzyme replacement treatments may be available for several NCL variants. Considering that there is rapid disease progression in NCLs, an early diagnosis is crucial, and neurophysiological features might have a key role for this purpose. Across the different subtypes of NCLs, electroencephalogram (EEG) is characterized by a progressive deterioration of cerebral activity with slowing of background activity and disappearance of spindles during sleep. Some types of heterogeneous abnormalities, diffuse or focal, prevalent over temporal and occipital regions, are described in many NCL variants. Photoparoxysmal response to low-frequency intermittent photic stimulation (IPS) is a typical EEG finding, mostly described in CLN2, CLN5, and CLN6 diseases. Visual evoked potentials (VEPs) allow to monitor the visual functions, and the lack of response at electroretinogram (ERG) reflects retinal neurodegeneration. Taken together, EEG, VEPs, and ERG may represent essential tools toward an early diagnosis of NCLs.
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