Publication:
A rare case of juvenile amyotrophic lateral sclerosis

dc.contributor.authorBodur, Muhittin
dc.contributor.authorToker, Rabia Tütüncü
dc.contributor.authorBaşak, Ayşe Nazlı
dc.contributor.authorOkan, Mehmet Sait
dc.contributor.buuauthorBODUR, MUHİTTİN
dc.contributor.buuauthorTÜTÜNCÜ TOKER, RABİA
dc.contributor.buuauthorOKAN, MEHMET SAİT
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Nörolojisi Anabilim Dalı
dc.contributor.orcid0000-0002-2588-8195
dc.contributor.orcid0000-0002-3129-334X
dc.contributor.orcid0000-0002-9303-5768
dc.contributor.researcheridJAN-9435-2023
dc.contributor.researcheridAAH-2684-2021
dc.contributor.researcheridIZP-6290-2023
dc.contributor.researcheridDKC-6496-2022
dc.date.accessioned2024-06-27T05:47:15Z
dc.date.available2024-06-27T05:47:15Z
dc.date.issued2021-05-01
dc.description.abstractBackground. Amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial.Case. Here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C>T) variation was identified in the fused in sarcoma (FUS) gene.Conclusion. The p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.
dc.identifier.doi10.24953/turkjped.2021.03.017
dc.identifier.endpage499
dc.identifier.issn0041-4301
dc.identifier.issue3
dc.identifier.startpage495
dc.identifier.urihttps://doi.org/10.24953/turkjped.2021.03.017
dc.identifier.urihttps://hdl.handle.net/11452/42471
dc.identifier.urihttps://turkjpediatr.org/article/view/324
dc.identifier.volume63
dc.identifier.wos000668350700017
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherTürk Pediatri Dergisi
dc.relation.journalTürk Pediatri Dergisi
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectFus
dc.subjectDiagnosis
dc.subjectCriteria
dc.subjectJuvenile amyotrophic lateral sclerosis
dc.subjectFus gene
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectPediatrics
dc.titleA rare case of juvenile amyotrophic lateral sclerosis
dc.typeArticle
dspace.entity.typePublication
relation.isAuthorOfPublication6a7d0ca4-dd18-4890-86fa-1b5a7bd0c4f1
relation.isAuthorOfPublication2117fbaa-f41b-481d-afa1-416b275458f0
relation.isAuthorOfPublicationafcf2981-c150-42de-b600-f72b3ff95317
relation.isAuthorOfPublication.latestForDiscovery6a7d0ca4-dd18-4890-86fa-1b5a7bd0c4f1

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