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Scientific paper - Review paper
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies
Expert Review of Neurotherapeutics, 21 (2021), 11; 1275-1282. https://doi.org/10.1080/14737175.2021.1885374
Mazurkiewicz-Bełdzińska, Maria; del Toro, Mireia; Haliloğlu, Göknur; Huidekoper, Hidde H.; Kravljanac, Ružica; Mühlhausen, Chris; Andersen, Brian Nauheimer; Prpić, Igor; Striano, Pasquale; Auvin, Stéphane

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Mazurkiewicz Bełdzińska, M., del Toro, M., Haliloğlu, G., Huidekoper, H. H., Kravljanac, R., Mühlhausen, C. ... Auvin, S. (2021). Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies. Expert Review of Neurotherapeutics, 21. (11), 1275-1282. doi: 10.1080/14737175.2021.1885374

Mazurkiewicz Bełdzińska, Maria, et al. "Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies." Expert Review of Neurotherapeutics, vol. 21, no. 11, 2021, pp. 1275-1282. https://doi.org/10.1080/14737175.2021.1885374

Mazurkiewicz Bełdzińska, Maria, Mireia del Toro, Göknur Haliloğlu, Hidde H. Huidekoper, Ružica Kravljanac, Chris Mühlhausen, Brian Nauheimer Andersen, Igor Prpić, Pasquale Striano and Stéphane Auvin. "Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies." Expert Review of Neurotherapeutics 21, no. 11 (2021): 1275-1282. https://doi.org/10.1080/14737175.2021.1885374

Mazurkiewicz Bełdzińska, M., et al. (2021) 'Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies', Expert Review of Neurotherapeutics, 21(11), pp. 1275-1282. doi: 10.1080/14737175.2021.1885374

Mazurkiewicz Bełdzińska M, del Toro M, Haliloğlu G, Huidekoper HH, Kravljanac R, Mühlhausen C, and sur.. Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies. Expert Review of Neurotherapeutics [Internet]. 2021 [cited 2024 November 26];21(11):1275-1282. doi: 10.1080/14737175.2021.1885374

M. Mazurkiewicz Bełdzińska, et al., "Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies", Expert Review of Neurotherapeutics, vol. 21, no. 11, pp. 1275-1282, 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:506279. [Accessed: 26 November 2024]

Metadata
Title (english)Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies
AuthorMaria Mazurkiewicz-Bełdzińska
AuthorMireia del Toro
AuthorGöknur Haliloğlu
AuthorHidde H. Huidekoper
AuthorRužica Kravljanac
AuthorChris Mühlhausen
AuthorBrian Nauheimer Andersen
AuthorIgor Prpić
AuthorPasquale Striano
AuthorStéphane Auvin
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of the most common early symptoms of CLN2 disease, but patients often experience language deficits, movement disorders, and behavioral problems. Diagnosis of CLN2 disease is challenging (particularly when differentiating between early- onset developmental, metabolic, or epileptic syndromes), and diagnostic delays often overlap with rapid disease progression. An enzyme replacement therapy (cerliponase alfa) is now available, adding CLN2 disease to the list of potentially treatable disorders requiring a prompt diagnosis. Areas covered: Although advances in enzymatic activity testing and genetic testing have facilitated diagnoses of CLN2 disease, our review highlights the presenting symptoms that are vital in directing clinicians to perform appropriate tests or seek expert opinion. We also describe common diagnostic challenges and some potential misdiagnoses that may occur during differential diagnosis. Expert opinion: An awareness of CLN2 disease as a potentially treatable disorder and increased understanding of the key presenting symptoms can support selection of appropriate tests and prompt diagnosis. The available enzyme replacement therapy heralds an even greater imperative for early diagnosis, and for clinicians to direct patients to appropriate diagnostic pathways.
Keywords (english)
Languageenglish
Publication typeScientific paper - Review paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleExpert Review of Neurotherapeutics
Numberingvol. 21, no. 11, pp. 1275-1282
p-ISSN1473-7175
DOIhttps://doi.org/10.1080/14737175.2021.1885374
URN:NBNurn:nbn:hr:184:506279
Publication2021
Document URLhttp://bib.irb.hr/1252261
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2023-02-09 08:09:16