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Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation
Summary 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,...
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| Published in: | Epilepsia (Copenhagen) 2014-06, Vol.55 (6), p.e56-e59 |
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| Main Authors: | , , , , , , , , |
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| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c4872-14a1891ca2d27fed11dc74ccabf49b84373f38bd0e465c798cbdd54e08fd8e1d3 |
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| container_issue | 6 |
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| container_title | Epilepsia (Copenhagen) |
| container_volume | 55 |
| creator | Canafoglia, Laura Morbin, Michela Scaioli, Vidmer Pareyson, Davide D'Incerti, Ludovico Fugnanesi, Valeria Tagliavini, Fabrizio Berkovic, Samuel F. Franceschetti, Silvana |
| description | Summary
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. |
| doi_str_mv | 10.1111/epi.12632 |
| format | article |
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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.</description><identifier>ISSN: 0013-9580</identifier><identifier>EISSN: 1528-1167</identifier><identifier>DOI: 10.1111/epi.12632</identifier><identifier>PMID: 24779634</identifier><identifier>CODEN: EPILAK</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Atrophy ; Brain ; Brain - pathology ; Brain - physiopathology ; Cerebellum - pathology ; Electroencephalography ; Evoked Potentials, Visual ; Frontotemporal dementia ; Humans ; Intercellular Signaling Peptides and Proteins - genetics ; Kufs' disease ; Magnetic Resonance Imaging ; Male ; Mutation ; Neuroimaging ; Neuronal Ceroid-Lipofuscinoses - genetics ; Neuronal Ceroid-Lipofuscinoses - physiopathology ; Palinopsia ; Phenotype ; Progranulin ; Recessive ataxia ; Recurrence ; Retinal Diseases - genetics ; Seizures - genetics ; Siblings ; Young Adult</subject><ispartof>Epilepsia (Copenhagen), 2014-06, Vol.55 (6), p.e56-e59</ispartof><rights>Wiley Periodicals, Inc. © 2014 International League Against Epilepsy</rights><rights>Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.</rights><rights>Copyright © 2014 International League Against Epilepsy</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4872-14a1891ca2d27fed11dc74ccabf49b84373f38bd0e465c798cbdd54e08fd8e1d3</citedby><cites>FETCH-LOGICAL-c4872-14a1891ca2d27fed11dc74ccabf49b84373f38bd0e465c798cbdd54e08fd8e1d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24779634$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Canafoglia, Laura</creatorcontrib><creatorcontrib>Morbin, Michela</creatorcontrib><creatorcontrib>Scaioli, Vidmer</creatorcontrib><creatorcontrib>Pareyson, Davide</creatorcontrib><creatorcontrib>D'Incerti, Ludovico</creatorcontrib><creatorcontrib>Fugnanesi, Valeria</creatorcontrib><creatorcontrib>Tagliavini, Fabrizio</creatorcontrib><creatorcontrib>Berkovic, Samuel F.</creatorcontrib><creatorcontrib>Franceschetti, Silvana</creatorcontrib><title>Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation</title><title>Epilepsia (Copenhagen)</title><addtitle>Epilepsia</addtitle><description>Summary
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.</description><subject>Atrophy</subject><subject>Brain</subject><subject>Brain - pathology</subject><subject>Brain - physiopathology</subject><subject>Cerebellum - pathology</subject><subject>Electroencephalography</subject><subject>Evoked Potentials, Visual</subject><subject>Frontotemporal dementia</subject><subject>Humans</subject><subject>Intercellular Signaling Peptides and Proteins - genetics</subject><subject>Kufs' disease</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Mutation</subject><subject>Neuroimaging</subject><subject>Neuronal Ceroid-Lipofuscinoses - genetics</subject><subject>Neuronal Ceroid-Lipofuscinoses - physiopathology</subject><subject>Palinopsia</subject><subject>Phenotype</subject><subject>Progranulin</subject><subject>Recessive ataxia</subject><subject>Recurrence</subject><subject>Retinal Diseases - genetics</subject><subject>Seizures - genetics</subject><subject>Siblings</subject><subject>Young Adult</subject><issn>0013-9580</issn><issn>1528-1167</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNqNkcFqFTEUhoNY7LW68AUk4EbBaZNJJsksS6laKFRE10MmOakpc5MxmSi37-H7mtupXRQEswmB7_9yOD9Cryg5pvWcwOyPaStY-wRtaNeqhlIhn6INIZQ1fafIIXqe8w0hRArJnqHDlkvZC8Y36PcXMCUlCAu-hgBJT_4WLM7gb0uC_B7_9LnoCU8x14cOFs8VCXHOXmOd8fwdQlx2szfYgV72GRwdDlBSDDVnIEVv8eTn6Eo2NZl9xrYAXiKeU7xOOpQqvPsdb8uiFx_DC3Tg9JTh5f19hL59OP969qm5vPp4cXZ62RiuZNtQrqnqqdGtbaUDS6k1khujR8f7UXEmmWNqtAS46IzslRmt7TgQ5awCatkRert66yQ_CuRl2PpsYJp0gFjyQDvO-r6Xgv0HyjrBKGWkom8eoTexpLqNlSJCdHRPvVspk-puE7hhTn6r026gZNjXOtRah7taK_v63ljGLdgH8m-PFThZgV9-gt2_TcP554tV-QcF8K-M</recordid><startdate>201406</startdate><enddate>201406</enddate><creator>Canafoglia, Laura</creator><creator>Morbin, Michela</creator><creator>Scaioli, Vidmer</creator><creator>Pareyson, Davide</creator><creator>D'Incerti, Ludovico</creator><creator>Fugnanesi, Valeria</creator><creator>Tagliavini, Fabrizio</creator><creator>Berkovic, Samuel F.</creator><creator>Franceschetti, Silvana</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201406</creationdate><title>Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation</title><author>Canafoglia, Laura ; Morbin, Michela ; Scaioli, Vidmer ; Pareyson, Davide ; D'Incerti, Ludovico ; Fugnanesi, Valeria ; Tagliavini, Fabrizio ; Berkovic, Samuel F. ; Franceschetti, Silvana</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4872-14a1891ca2d27fed11dc74ccabf49b84373f38bd0e465c798cbdd54e08fd8e1d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Atrophy</topic><topic>Brain</topic><topic>Brain - pathology</topic><topic>Brain - physiopathology</topic><topic>Cerebellum - pathology</topic><topic>Electroencephalography</topic><topic>Evoked Potentials, Visual</topic><topic>Frontotemporal dementia</topic><topic>Humans</topic><topic>Intercellular Signaling Peptides and Proteins - genetics</topic><topic>Kufs' disease</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Mutation</topic><topic>Neuroimaging</topic><topic>Neuronal Ceroid-Lipofuscinoses - genetics</topic><topic>Neuronal Ceroid-Lipofuscinoses - physiopathology</topic><topic>Palinopsia</topic><topic>Phenotype</topic><topic>Progranulin</topic><topic>Recessive ataxia</topic><topic>Recurrence</topic><topic>Retinal Diseases - genetics</topic><topic>Seizures - genetics</topic><topic>Siblings</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Canafoglia, Laura</creatorcontrib><creatorcontrib>Morbin, Michela</creatorcontrib><creatorcontrib>Scaioli, Vidmer</creatorcontrib><creatorcontrib>Pareyson, Davide</creatorcontrib><creatorcontrib>D'Incerti, Ludovico</creatorcontrib><creatorcontrib>Fugnanesi, Valeria</creatorcontrib><creatorcontrib>Tagliavini, Fabrizio</creatorcontrib><creatorcontrib>Berkovic, Samuel F.</creatorcontrib><creatorcontrib>Franceschetti, Silvana</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Epilepsia (Copenhagen)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Canafoglia, Laura</au><au>Morbin, Michela</au><au>Scaioli, Vidmer</au><au>Pareyson, Davide</au><au>D'Incerti, Ludovico</au><au>Fugnanesi, Valeria</au><au>Tagliavini, Fabrizio</au><au>Berkovic, Samuel F.</au><au>Franceschetti, Silvana</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation</atitle><jtitle>Epilepsia (Copenhagen)</jtitle><addtitle>Epilepsia</addtitle><date>2014-06</date><risdate>2014</risdate><volume>55</volume><issue>6</issue><spage>e56</spage><epage>e59</epage><pages>e56-e59</pages><issn>0013-9580</issn><eissn>1528-1167</eissn><coden>EPILAK</coden><abstract>Summary
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.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>24779634</pmid><doi>10.1111/epi.12632</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Epilepsia (Copenhagen), 2014-06, Vol.55 (6), p.e56-e59 |
| issn | 0013-9580 1528-1167 |
| language | eng |
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| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Atrophy Brain Brain - pathology Brain - physiopathology Cerebellum - pathology Electroencephalography Evoked Potentials, Visual Frontotemporal dementia Humans Intercellular Signaling Peptides and Proteins - genetics Kufs' disease Magnetic Resonance Imaging Male Mutation Neuroimaging Neuronal Ceroid-Lipofuscinoses - genetics Neuronal Ceroid-Lipofuscinoses - physiopathology Palinopsia Phenotype Progranulin Recessive ataxia Recurrence Retinal Diseases - genetics Seizures - genetics Siblings Young Adult |
| title | Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation |
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