{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T19:19:09Z","timestamp":1767899949629,"version":"3.49.0"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2023,9,15]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>A young man from Pakistan had his first-ever tonic-clonic seizure while playing cricket. Since age 12 years, he had reported involuntary jerks and tremulousness, sometimes with falls, particularly with bright lights. Family history included a brother who developed seizures with myoclonus in his mid-20s and parental consanguinity. Developmental history was normal. Examination identified cognitive impairment with action myoclonus. His clinical presentation raised suspicion of a progressive myoclonus epilepsy. MR scan of the brain showed white matter changes suggesting leucodystrophy with cortical atrophy. Electroencephalogram showed generalised epileptiform abnormalities with photoparoxysmal responses, including at low frequencies (1\u2009Hz). Cortical hyperexcitability was confirmed with giant median somatosensory evoked potentials and long loop reflexes at rest. Multichannel electromyography showed action myoclonus with variable synchronous and asynchronous agonist and antagonist muscle activation with short-burst duration of 25\u201375\u2009ms, and jerk-locked back-averaging showed premyoclonic potentials consistent with cortical myoclonus. Genetic sequencing identified a homozygous missense variant in the <jats:italic>CLN6<\/jats:italic> gene (c.768C&gt;G\u2009p.(Asp256Glu), confirming Kufs disease type A.<\/jats:p>","DOI":"10.1136\/pn-2022-003652","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T08:20:23Z","timestamp":1705998023000},"page":"41-44","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Adult-onset Kufs disease"],"prefix":"10.1136","volume":"24","author":[{"given":"Albert","family":"Kelly","sequence":"first","affiliation":[{"name":"Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Dunne","sequence":"additional","affiliation":[{"name":"Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia"},{"name":"Internal Medicine, The University of Western Australia Faculty of Health and Medical Sciences, Perth, Western Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn","family":"Orr","sequence":"additional","affiliation":[{"name":"Neurology, Royal Perth Hospital, Perth, Western Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas","family":"Lawn","sequence":"additional","affiliation":[{"name":"Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia"},{"name":"Neurology, Western Australian Adult Epilepsy Service, Perth, Western Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,10,6]]},"reference":[{"key":"2025090411245307000_24.1.41.1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2014-000994"},{"key":"2025090411245307000_24.1.41.2","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1212\/WNL.0000000000001784","article-title":"Electroclinical spectrum of the neuronal ceroid Lipofuscinoses associated with Cln6 mutations","volume":"85","author":"Canafoglia","year":"2015","journal-title":"Neurology"},{"key":"2025090411245307000_24.1.41.3","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","year":"2016","journal-title":"Neurology"},{"key":"2025090411245307000_24.1.41.4","doi-asserted-by":"publisher","DOI":"10.1097\/WNP.0b013e31824d949f"},{"key":"2025090411245307000_24.1.41.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"2025090411245307000_24.1.41.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2005.31405.x"},{"key":"2025090411245307000_24.1.41.7","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.pediatrneurol.2012.05.004","article-title":"Mutation of the Cln6 gene in teenage-onset progressive myoclonus epilepsy","volume":"47","author":"Andrade","year":"2012","journal-title":"Pediatr Neurol"},{"key":"2025090411245307000_24.1.41.8","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813494268"},{"key":"2025090411245307000_24.1.41.9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01546.x"},{"key":"2025090411245307000_24.1.41.10","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy297"},{"key":"2025090411245307000_24.1.41.11","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f0547"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2022-003652","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T18:24:57Z","timestamp":1757010297000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2022-003652"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,6]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,23]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1136\/pn-2022-003652"],"URL":"https:\/\/doi.org\/10.1136\/pn-2022-003652","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,6]]}}}