Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation
Abstract
We detail the phenotype of a novel form of neuronal ceroid lipofuscinosis due to a homozygous progranulin gene mutation (c.813_816del; CLN11 MIM #614706). The symptoms appeared in two young adult siblings, and included progressive retinopathy, recurrent generalized seizures, moderate ataxia, and subtle cognitive dysfunction. Long-lasting episodes of palinopsia were a recurring symptom and associated with polyphasic visual-evoked potential waveform that suggested hyperexcitability of the occipital cortex. Electroencephalography showed rare spike-wave paroxysms, and magnetic resonance imaging revealed selective cerebellar atrophy. Skin biopsy revealed fingerprint storage and the absence of progranulin protein. Electron microscopy of peripheral blood leukocytes showed fingerprint profiles in 1/100 lymphocytes. These findings define a novel phenotype and provide clues for better understanding of progranulin function. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.
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Lysosomes are important for synaptic structure and function.
“Lysosomes are also important for synaptic structure and function.”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [28]
Initially too many spines are formed, and then a subset is pruned by microglia in early childhood, and impairment of pruning is associated with common neurodevelopmental disorders such as autism.
“Initially, too many spines are formed, and then a subset is “pruned” by microglia in early childhood, and impairment of pruning is associated with common neurodevelopmental disorders such as autism.28,29”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [28]
Dendritic spines are the key site for receiving postsynaptic signaling.
“Dendritic spines are the key site for receiving postsynaptic signaling.28”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [28]
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Sullivan, P. M., Zhou, X., Robins, A. M., Paushter, D. H., Kim, D., Smolka, M. B., & Hu, F. (2016) · Acta Neuropathologica Communications · doi:10.1186/s40478-016-0324-5 · Cited by 295 · see citing works
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
Ward, M. E., Chen, R., Huang, H.-Y., Ludwig, C., Telpoukhovskaia, M., Taubes, A., Boudin, H., Minami, S. S., Reichert, M., Albrecht, P., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aah5642 · Cited by 193 · see citing works
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms
Huin, V., Barbier, M., Bottani, A., Lobrinus, J. A., Clot, F., Lamari, F., Chat, L., Rucheton, B., Fluchère, F., Auvin, S., et al. (2020) · Brain · doi:10.1093/brain/awz377 · Cited by 96 · see citing works
Lane-Donovan, C., Paredes, M., & Kao, A. W. (2025) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2025.102854 · Cited by 3 · see citing works
- Authors
- Canafoglia, L., Morbin, M., Scaioli, V., Pareyson, D., D'Incerti, L., Fugnanesi, V., Tagliavini, F., Berkovic, S. F., & Franceschetti, S.
- Affiliations
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Clinic of Central and Peripheral Degenerative Neuropathies Unit Department of Clinical Neurosciences Milan Italy
- Neuroradiology IRCCS Foundation C. Besta Neurological Institute Milan Italy
- The University of Melbourne (AU)
- Corresponding author
- Franceschetti, Silvana
- ORCID
- Venue
- Epilepsia
- Publisher
- Wiley
- Published
- 2014-04-29
- Volume
- 55
- Issue
- 6
- Pages
- e56-9
- ISSN
- 0013-9580 (ISSN-L)
- 1528-1167
- OpenAlex
- W2070161555
- Cited by
- 71
- References
- 1
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 8 · 2023: 6 · 2022: 5 · 2021: 7 · 2020: 9 · 2019: 5 · 2018: 4 · 2017: 5 · 2016: 5 · 2015: 3 · 2014: 1
- FWCI
- 3.10
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Epilepsia (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- neuronal ceroid lipofuscinosis, palinopsia, vision loss, cerebellar atrophy, ataxia, cognitive impairment, novel phenotype
- MeSH terms
- Progranulins, Atrophy, Brain, Cerebellum, Electroencephalography, Evoked Potentials, Visual, Humans, Magnetic Resonance Imaging, Male, Mutation, Neuronal Ceroid-Lipofuscinoses, Phenotype, Recurrence, Retinal Diseases, Seizures, Siblings, Intercellular Signaling Peptides and Proteins, Young Adult, Neuroimaging
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