Phenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkey

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dc.authorscopusidBelma Doğan Güngen / 56841681700
dc.authorwosidBelma Doğan Güngen / JMX-6710-2023
dc.contributor.authorKotan, Dilcan
dc.contributor.authorAyas, Zeynep Ozozen
dc.contributor.authorTunca, Ceren
dc.contributor.authorDoğan Güngen, Belma
dc.contributor.authorAkcimen, Fulya
dc.contributor.authorBasak, A. Nazli
dc.date.accessioned2020-08-30T20:06:07Z
dc.date.available2020-08-30T20:06:07Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Hastaneen_US
dc.description.abstractAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease leading to motor neuron damage. In this study, the clinical, demographic, and genetic features of ALS patients in the city of Sakarya, Turkey, were investigated. Patients with an established diagnosis of ALS according to the Awaji criteria were included. Age, sex, age at onset of ALS, initial complaints, consanguineous marriage, and genetic features were retrospectively investigated. Conventional genetic analysis and NGS were used for molecular evaluation of patients. A total of 55 probands (10 familial, 45 sporadic) in whom ALS was suspected due to their phenotypic features were included. Thirty-two patients were male (58.2%), and 23 were female (41.8%); their mean ages were 62.65 +/- 13 years. The mean age of onset for 37 familial patients from 10 families was 49.9 years. Two cases had juvenile-onset. Fourteen (25.5%) bulbar-onset versus 40 (72.7%) limb-onset patients were detected; one patient had both. Six (10.9%) patients showed marked frontotemporal dementia. Twenty-nine (52.7%) patients died during the follow-up period. Genetic analysis identified causative variants in eleven cases, carrying variants in six different ALS genes (C9orf72,SOD1,VCP,SPG11,TBK1, and SH3TC2). Genetic investigations have revealed more than 40 genes to be involved in the pathogenesis of ALS. Our relatively small study cohort restricted to one province of Turkey, however, prone to migration, consists of 10/55 familial ALS cases, which harbor two rare (SH3TC2-p.Met523Thr and TBK1-p.Glu643del) and two novel (SPG11-p.Lys656Valfs*11 and VCP-p.Arg191Pro) mutations contributing to the literature.en_US
dc.description.sponsorshipSuna and Inan Kirac Foundation at Koc University-KUTTAMen_US
dc.description.sponsorshipThe genetic analyses of this study were financed by Suna and Inan Kirac Foundation at Koc University-KUTTAM.en_US
dc.identifier.citationKotan, D., Ayas, Z. Ö., Tunca, C., Gungen, B. D., Akçimen, F., & Başak, A. N. (2020). Phenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkey. Acta Neurologica Belgica, 1-8.en_US
dc.identifier.doi10.1007/s13760-020-01441-zen_US
dc.identifier.issn0300-9009en_US
dc.identifier.issn2240-2993en_US
dc.identifier.pmid32671691en_US
dc.identifier.scopus2-s2.0-85087949747en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1007/s13760-020-01441-z
dc.identifier.urihttps://hdl.handle.net/20.500.12713/371
dc.identifier.wosWOS:000548764100001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorDoğan Güngen, Belmaen_US
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofActa Neurologica Belgicaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAmyotrophic Lateral Sclerosisen_US
dc.subjectFamilialen_US
dc.subjectSporadicen_US
dc.subjectGenetic Analysisen_US
dc.subjectSakarya Districten_US
dc.subjectTurkeyen_US
dc.titlePhenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkeyen_US
dc.typeArticleen_US

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