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dc.contributor.authorBayrakli, Fatih
dc.contributor.authorBalaban, Hatice
dc.contributor.authorGurelik, Mustafa
dc.contributor.authorHizmetli, Sami
dc.contributor.authorTopaktas, Suat
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T09:58:05Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T09:58:05Z
dc.date.issued2014
dc.identifier.issn1019-5149
dc.identifier.urihttps://dx.doi.org/10.5137/1019-5149.JTN.6226-12.1
dc.identifier.urihttps://hdl.handle.net/20.500.12418/8434
dc.descriptionWOS: 000331663300014en_US
dc.descriptionPubMed ID: 24535794en_US
dc.description.abstractAIM: To show the mutation in HTRA1 gene in a patient suffering from CARASIL syndrome with degenerated spine as a component of the disease. MATERIAL and METHODS: We identified a family that one of the members had CARASIL syndrome in eastern Turkey and collected venous blood from available persons. The HTRA1 gene sequenced in all family members. RESULTS: C to T transition at position 1108 (c.1108 C>T) in exon 6, causing stop codon formation (R370X) was seen in the HTRA1 gene in a homozygous state in the CARASIL patient whereas it was heterozygous in other healthy family members. CONCLUSION: We demonstrated homozygous c.1108 C>T mutation in the HTRA1 gene causing a very rare syndrome, especially in the non-Japanese population, called CARASIL. Patients with degenerated spine and progressive clinical symptoms must be evaluated or reevaluated for other central nervous system symptoms and signs to rule out other diseases or syndromes.en_US
dc.description.sponsorshipScientific Research Project Fund of Cumhuriyet University [T-447]en_US
dc.description.sponsorshipThis work is supported by a Scientific Research Project Fund of Cumhuriyet University under project number T-447.en_US
dc.language.isoengen_US
dc.publisherTURKISH NEUROSURGICAL SOCen_US
dc.relation.isversionof10.5137/1019-5149.JTN.6226-12.1en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectDegenerated spineen_US
dc.subjectHTRA1en_US
dc.subjectCARASILen_US
dc.subjectMutationen_US
dc.titleMutation in the HTRA1 Gene in a Patient with Degenerated Spine as a Component of CARASIL Syndromeen_US
dc.typearticleen_US
dc.relation.journalTURKISH NEUROSURGERYen_US
dc.contributor.department[Bayrakli, Fatih -- Gurelik, Mustafa] Cumhuriyet Univ, Dept Neurosurg, Fac Med, Sivas, Turkey -- [Balaban, Hatice -- Topaktas, Suat] Cumhuriyet Univ, Dept Neurol, Fac Med, Sivas, Turkey -- [Hizmetli, Sami] Cumhuriyet Univ, Dept Phys Therapy & Rehabil, Fac Med, Sivas, Turkeyen_US
dc.identifier.volume24en_US
dc.identifier.issue1en_US
dc.identifier.endpage69en_US
dc.identifier.startpage67en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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