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dc.contributor.authorABDÜLREZZAK, ÜMMÜHAN
dc.contributor.authorHanagasi, Haşmet Ayhan
dc.contributor.authorEkinci, Ayten
dc.contributor.authorTepgec, Fatih
dc.contributor.authorUyguner, Oya
dc.contributor.authorKoseoglu, Emel
dc.contributor.authorYETKİN, MEHMET FATİH
dc.date.accessioned2021-03-05T19:14:20Z
dc.date.available2021-03-05T19:14:20Z
dc.date.issued2018
dc.identifier.citationKoseoglu E., Tepgec F., YETKİN M. F. , Uyguner O., Ekinci A., ABDÜLREZZAK Ü., Hanagasi H. A. , "Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family", NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, cilt.55, ss.98-102, 2018
dc.identifier.issn1300-0667
dc.identifier.otherav_ce5439b2-c553-43e5-8f1d-d90c63591fdf
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/136482
dc.identifier.urihttps://doi.org/10.5152/npa.2017.19484
dc.description.abstractThe differential diagnosis of young-onset progressive dementia is an issue that requires effort. Recording the family history and careful clinical evaluation are useful tools in the diagnosis. In case of genetic bases, definitive diagnosis requires molecular analysis. We report consanguineous two patients presenting with young-onset progressive dementia characterized by behavioral changes and with bone cysts. Concomitant bone pathology and inheritance pattern directed us to investigate TREM2 gene, for differential diagnosis, which resulted with the identification of a causative mutation that confirmed the diagnosis of Nasu Hakola disease. The mutation (c.113A>G) is the same for a Turkish family with Nasu Hakola disease reported before. But the presence of bone cysts and absence of epilepsy in our patients are the different findings. Molecular analysis should be considered in patients with young age onset behavioral and cognitive deficits, with white matter lesions in brain magnetic resonance imaging, if especially associated with cystic bone lesions.
dc.language.isoeng
dc.subjectNöroloji
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleNasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family
dc.typeMakale
dc.relation.journalNOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
dc.contributor.departmentErciyes Üniversitesi , ,
dc.identifier.volume55
dc.identifier.issue1
dc.identifier.startpage98
dc.identifier.endpage102
dc.contributor.firstauthorID31266


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