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dc.contributor.authorGurvit, H.
dc.contributor.authorÖZDEMİR, Özlem
dc.contributor.authorUĞUR İŞERİ, SİBEL AYLİN
dc.contributor.authorHanagasi, Haşmet Ayhan
dc.contributor.authorBilgic, Başar
dc.contributor.authorYucesan, E.
dc.contributor.authorGormez, Z.
dc.contributor.authorBakir Gungor, B.
dc.contributor.authorSarac, A.
dc.contributor.authorSagiroglu, M.
dc.contributor.authorOzbek, U.
dc.date.accessioned2021-03-06T10:54:03Z
dc.date.available2021-03-06T10:54:03Z
dc.date.issued2017
dc.identifier.citationYucesan E., UĞUR İŞERİ S. A. , Bilgic B., Gormez Z., Bakir Gungor B., Sarac A., ÖZDEMİR Ö., Sagiroglu M., Gurvit H., Hanagasi H. A. , et al., "SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey", NEUROLOGICAL SCIENCES, cilt.38, sa.12, ss.2203-2207, 2017
dc.identifier.issn1590-1874
dc.identifier.othervv_1032021
dc.identifier.otherav_ec8f58e8-32f0-4e01-a0ae-2ec9387b6e26
dc.identifier.urihttp://hdl.handle.net/20.500.12627/155319
dc.identifier.urihttps://doi.org/10.1007/s10072-017-3049-8
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85022018103&origin=inward
dc.description.abstractSYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings. We identified a homozygous variant in SYNE1 (NM_033071.3: c.13086delC; p.His4362GlnfsX2) in all four affected siblings. This variant presented herein has originally been associated with only pure ataxia in a single case. We thus present segregation and phenotypic manifestations of this variant in four affected family members and further extend the pure ataxia phenotype with upper motor neuron involvement and peripheral neuropathy. Our findings in turn established a precise molecular diagnosis in this family, demonstrating the use of WES combined with linkage analysis in families as a powerful tool for establishing a quick and precise genetic diagnosis of complex neurological phenotypes.
dc.language.isoeng
dc.subjectNöroloji
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectSinirbilim ve Davranış
dc.subjectNEUROSCIENCES
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleSYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey
dc.typeMakale
dc.relation.journalNEUROLOGICAL SCIENCES
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume38
dc.identifier.issue12
dc.identifier.startpage2203
dc.identifier.endpage2207
dc.contributor.firstauthorID107029


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