{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T05:02:31Z","timestamp":1785042151639,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"vor","delay-in-days":61,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We report the atypical presentation of Lafora disease in a Senegalese girl carrying the homozygous variant, c.560A&gt;C, in the <jats:italic>NHLRC1<\/jats:italic> gene. At 13 years, the patient developed myoclonic and visual seizures, progressive psychomotor slowing, and cognitive decline. At 14 years, a neurological examination showed severe hypomimia, bradykinesia, rigidity and low\u2010amplitude myoclonic jerks. Flash\u2010visual and somatosensory evoked potentials showed an increased amplitude of the cortical components, while an electroretinogram showed attenuated responses. An EEG showed diffuse polyspikes associated with positive\u2010negative jerks as well as posterior slow waves and irregular spikes. The electroclinical picture suggested the diagnosis of Lafora disease regarding the association of visual seizures, cognitive deterioration, and action myoclonus, together with the EEG and evoked potential findings. Two uncommon findings were the prominence of extrapyramidal signs in the early stage of disease (which are rarely reported) and attenuation of electroretinal responses. We consider that Lafora disease should be included in the diagnostic work\u2010up for juvenile Parkinsonism, when associated with epilepsy.<\/jats:p>","DOI":"10.1684\/epd.2020.1150","type":"journal-article","created":{"date-parts":[[2020,10,15]],"date-time":"2020-10-15T13:28:31Z","timestamp":1602768511000},"page":"233-236","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Early Parkinsonism in a Senegalese girl with Lafora disease"],"prefix":"10.1002","volume":"22","author":[{"given":"Francesca","family":"Ragona","sequence":"first","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE  Milano"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Canafoglia","sequence":"additional","affiliation":[{"name":"Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta  Milano"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Castellotti","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases Fondazione IRCCS Istituto Neurologico Carlo Besta  Milano"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Solazzi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE  Milano"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gabbiadini","sequence":"additional","affiliation":[{"name":"Unit of Child Neuropsychiatry Ospedale Papa Giovanni XXIII  Bergamo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Freri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE  Milano"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidmer","family":"Scaioli","sequence":"additional","affiliation":[{"name":"Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta  Milano"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo Cosimo","family":"DiFrancesco","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE  Milano"},{"name":"Department of Neurology and Epilepsy Center Milan Center for Neuroscience, San Gerardo Hospital, University of Milano\u2010Bicocca  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Gellera","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Diseases Fondazione IRCCS Istituto Neurologico Carlo Besta  Milano"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Granata","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE  Milano"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147475.71345.AA"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000077"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2012.0489"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2013.08.002"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000101"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.06.025"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0190-4"},{"key":"e_1_2_6_9_1","first-page":"382","article-title":"Lafora disease, a form of progressive myoclonus epilepsy","volume":"15","author":"Van Heycop Ten Ham M.V.","year":"1974","journal-title":"Handb Clin Neurol"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000005821"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2017.07.011"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2020.1150","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:31:14Z","timestamp":1710779474000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2020.1150"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1684\/epd.2020.1150"],"URL":"https:\/\/doi.org\/10.1684\/epd.2020.1150","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"2019-09-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}