{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:43:20Z","timestamp":1790419400509,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T00:00:00Z","timestamp":1497916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aimed to identify early clinical, magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>), and electroencephalographic (<jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content>) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective clinical chart review of a series of patients diagnosed with <jats:styled-content style=\"fixed-case\">CLN<\/jats:styled-content>2 disease from 2005 to 2015 at a single center in Italy. Clinical, <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>, and <jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content> findings were reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 14 patients were included. For the whole group, median (range) age at disease onset was 3.0 (2.0\u20133.8) years. Epilepsy was the most commonly reported presenting symptom (in 50% [seven of 14] of patients), occurring at the age of 3.2 (2.6\u20133.8) years. First seizure was myoclonic in 36% (five of 14) of patients, followed by generalized tonic\u2013clonic in 29% (4 of 14), atonic in 22% (three of 14), and focal with motor signs in 14% (two of 14). All patients walked independently at the age of 12.0 (11.0\u201318.0) months, but delayed speech or regression of acquired verbal skills was present in 100% of patients at 3 years. <jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content>s revealed a photoparoxysmal response (PPR) on intermittent photic stimulation in 93% (13 of 14) of patients. <jats:styled-content style=\"fixed-case\">PPR<\/jats:styled-content> was present from the first <jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content>, which was performed at 3.6 (3.1\u20134.0) years, in 43% (six of 14) of patients; it was documented at low (1\u20133 Hz) stimulation frequencies in 69% (nine of 13) and took the form of a flash\u2010per\u2010flash response in 69% (nine of 13). First brain <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> at the age of 3.8 (3.0\u20135.1) years revealed cerebellar atrophy in 100% (14 of 14) of patients and alteration of the periventricular white matter signal in the posterior hemispheric region in 79% (11 of 14).<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Early photosensitivity (typically <jats:styled-content style=\"fixed-case\">PPR<\/jats:styled-content> at low stimulation frequencies of 1\u20133 Hz) is a hallmark of <jats:styled-content style=\"fixed-case\">CLN<\/jats:styled-content>2 disease. This diagnosis should be considered in a child presenting with any type of seizure, and particularly if it is accompanied by delayed speech and\/or ataxia or <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> abnormalities (posterior white matter signal alteration or cerebellar atrophy).<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.13820","type":"journal-article","created":{"date-parts":[[2017,6,20]],"date-time":"2017-06-20T12:56:49Z","timestamp":1497963409000},"page":"1380-1388","source":"Crossref","is-referenced-by-count":60,"title":["Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease"],"prefix":"10.1111","volume":"58","author":[{"given":"Nicola","family":"Specchio","sequence":"first","affiliation":[{"name":"Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS (Istituto di Ricerca e Cura a Carattere Scientifico) Rome 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