Basit öğe kaydını göster

dc.contributor.authorNaumann, Marcel
dc.contributor.authorPeikert, Kevin
dc.contributor.authorGünther, Rene
dc.contributor.authorvan der Kooi, Anneke J.
dc.contributor.authorAronica, Eleonora
dc.contributor.authorHübers, Annemarie
dc.contributor.authorDanel, Veronique
dc.contributor.authorCorcia, Philippe
dc.contributor.authorPan‐Montojo, Francisco
dc.contributor.authorCirak, Sebahattin
dc.contributor.authorHaliloglu, Göknur
dc.contributor.authorLudolph, Albert C.
dc.contributor.authorGoswami, Anand
dc.contributor.authorAndersen, Peter M.
dc.contributor.authorPrudlo, Johannes
dc.contributor.authorWegner, Florian
dc.contributor.authorVan Damme, Philip
dc.contributor.authorWeishaupt, Jochen H.
dc.contributor.authorHermann, Andreas
dc.date.accessioned2021-06-02T10:40:01Z
dc.date.available2021-06-02T10:40:01Z
dc.date.issued2019
dc.identifier.issn2328-9503
dc.identifier.urihttp://dx.doi.org/10.1002/acn3.50930
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917314/
dc.identifier.urihttp://hdl.handle.net/11655/23846
dc.description.abstractObjective Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instability are contributors to the pathophysiology of FUS‐ALS, but their clinical significance per se and their influence on the clinical variability have yet to be sufficiently investigated. The aim of this study was to analyze genotype–phenotype correlations and malignancy rates in a newly compiled FUS‐ALS cohort. Methods We cross‐sectionally reviewed FUS‐ALS patient histories in a multicenter cohort with 36 novel cases and did a meta‐analysis of published FUS‐ALS cases reporting the largest genotype–phenotype correlation of FUS‐ALS. Results The age of onset (median 39 years, range 11–80) was positively correlated with the disease duration. C‐terminal domain mutations were found in 90%. Among all, P525L and truncating/ frameshift mutations most frequently caused juvenile onset, rapid disease progression, and atypical ALS often associated with negative family history while the R521 mutation site was associated with late disease onset and pure spinal phenotype. Malignancies were found in one of 40 patients. Interpretation We report the largest genotype–phenotype correlation of FUS‐ALS, which enables a careful prediction of the clinical course in newly diagnosed patients. In this cohort, FUS‐ALS patients did not have an increased risk for malignant diseases.
dc.language.isoen
dc.relation.isversionof10.1002/acn3.50930
dc.rightsAttribution 4.0 United States
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titlePhenotypes And Malignancy Risk Of Different Fus Mutations In Genetic Amyotrophic Lateral Sclerosis
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalAnnals Of Clinical And Translational Neurology
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume6
dc.identifier.issue12
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus


Bu öğenin dosyaları:

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster

Attribution 4.0 United States
Aksi belirtilmediği sürece bu öğenin lisansı: Attribution 4.0 United States