{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T18:59:15Z","timestamp":1789498755174,"version":"build-2803163510"},"reference-count":8,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, lysosomal storage disorder that causes pediatric onset neurodegenerative disease. It is characterized by mutations in the <jats:italic>TPP1<\/jats:italic> gene. Symptoms begin between 2 and 4\u2009years of age with loss of previously acquired motor, cognitive, and language abilities. Cerliponase alfa, a recombinant human TPP1 enzyme, is the only approved therapy. We report the first presymptomatic cerliponase alfa intraventricular treatment in a familial case of CLN2 related to a classical <jats:italic>TPP1<\/jats:italic> variant. Sister 1 presented with motor, cognitive, and language decline and progressive myoclonic epilepsy since the age of 3\u2009years, evolved with severe diffuse encephalopathy, received no specific treatment, and died at 11\u2009years. Sister 2 had a CLN2 presymptomatic diagnosis and has been treated with cerliponase since she was 12 months old. She is now 6\u2009years 8\u2009months and has no CLN2 symptom except one generalized seizure 1\u2009year ago. No serious adverse event has occurred. Repeated Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition standardized index scores are heterogeneous in the extremely low to low average ranges. Mean length of utterances, a global index of sentence complexity, showed a delay, but a gradual improvement. The reported case enhances the major contribution of presymptomatic diagnosis and significant middle\u2010term treatment benefit for patients with CLN2.<\/jats:p>","DOI":"10.1111\/ene.16324","type":"journal-article","created":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T06:24:40Z","timestamp":1714631080000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy\u2014Oldest case of a presymptomatic enzyme therapy"],"prefix":"10.1111","volume":"31","author":[{"given":"Delphine","family":"Breuillard","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department Necker\u2010Enfants Malades Hospital, Assistance Publique\u2010H\u00f4pitaux de Paris (AP\u2010HP), Universit\u00e9 de Paris Cit\u00e9  Paris 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