{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T10:43:48Z","timestamp":1788173028109,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,7,12]],"date-time":"2017-07-12T00:00:00Z","timestamp":1499817600000},"content-version":"vor","delay-in-days":41,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Aim<\/jats:italic>. Reports on the clinical presentation of adult\u2010onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile\u2010 and childhood\u2010onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult\u2010onset NCL and homozygous mutation in the <jats:italic>CLN6<\/jats:italic> gene.<\/jats:p><jats:p><jats:italic>Methods<\/jats:italic>. We retrospectively analysed medical records and electrophysiological data in order to delineate evolution of clinical and electrophysiological findings. Electrophysiological studies included routine EEG and video\u2010EEG, as well as polymyographic analysis of myoclonus and brainstem reflex studies.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. Both patients had seizures and cerebellar signs. Despite the slow progression of ataxia, they developed no mental deterioration, but had severe obsessive compulsive disorder and depression. EEG revealed frequent generalized spikes, polyspikes, and waves, prominent on awakening and during photic stimulation without significant change throughout the clinical course. Abnormalities concerning the blink reflex, auditory startle response, and startle response to somatosensory inputs manifested within four years. The patients underwent transient and mild improvement with valproate, whereas ataxia and seizures were dramatically ameliorated following high\u2010dose piracetam.<\/jats:p><jats:p><jats:italic>Conclusions<\/jats:italic>. Patients with adult\u2010onset NCL may present with slowly progressive ataxia, persistent photosensitivity, and seizures without dementia or extrapyramidal findings. Brainstem abnormalities become more evident with time, in line with ataxia. Piracetam is effective for both seizures and ataxia.<\/jats:p>","DOI":"10.1684\/epd.2017.0911","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"147-151","source":"Crossref","is-referenced-by-count":11,"title":["Long\u2010term follow\u2010up of two siblings with adult\u2010onset neuronal ceroid lipofuscinosis, Kufs type A"],"prefix":"10.1002","volume":"19","author":[{"given":"\u00c7i\u011fdem","family":"\u00d6zkara","sequence":"first","affiliation":[{"name":"Istanbul University, Cerrahpasa School of Medicine Department of Neurology Istanbul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015feg\u00fcl","family":"G\u00fcnd\u00fcz","sequence":"additional","affiliation":[{"name":"Istanbul University, Cerrahpasa School of Medicine Department of Neurology Istanbul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00fclin","family":"Co\u015fkun","sequence":"additional","affiliation":[{"name":"Istanbul University, Cerrahpasa School of Medicine Department of Neurology Istanbul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bengi G\u00fcl","family":"Alpaslan","sequence":"additional","affiliation":[{"name":"Istanbul University, Cerrahpasa School of Medicine Department of Neurology Istanbul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcu","family":"Zeydan","sequence":"additional","affiliation":[{"name":"Istanbul University, Cerrahpasa School of Medicine Department of Neurology Istanbul"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015eakir","family":"Delil","sequence":"additional","affiliation":[{"name":"Bat\u0131 Bahat Hospital Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko","family":"Muona","sequence":"additional","affiliation":[{"name":"Institute for Molecular Medicine Finland, University of Helsinki, Helsinki; Folkh\u00e4lsan Institute of Genetics, Helsinki; Research Programs Unit, Molecular Neurology and Neuroscience Center University of Helsinki Helsinki"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna\u2010Elina","family":"Lehesjoki","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics, Helsinki Finland; Research Programs Unit, Molecular Neurology and Neuroscience Center University of Helsinki Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral E.","family":"K\u0131z\u0131ltan","sequence":"additional","affiliation":[{"name":"Istanbul University, Cerrahpasa School of Medicine Department of Neurology Istanbul"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12634"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2005.00272.x"},{"issue":"6","key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1212\/WNL.0000000000002943","article-title":"Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)","volume":"87","author":"Berkovic S.F.","year":"2016","journal-title":"Neurology"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2015.05.006"},{"key":"e_1_2_6_7_1","first-page":"1993","volume-title":"GeneReviews\u00ae (Internet)","author":"Fox MH","year":"2014"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/338190"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/09687860600967317"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/1550059416646292"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.64.3.344"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0844"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/14656566.2017.1280459"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10364"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/338708"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2017.0911","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:11:32Z","timestamp":1710778292000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2017.0911"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["10.1684\/epd.2017.0911"],"URL":"https:\/\/doi.org\/10.1684\/epd.2017.0911","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6]]}}}