Genetic aspects of ataxias in a cohort of Turkish patients
| dc.contributor.author | Göğüs, Başak | |
| dc.contributor.author | Elmas, Muhsin | |
| dc.contributor.author | Türk Börü, Ülkü | |
| dc.date.accessioned | 2024-09-19T12:18:53Z | |
| dc.date.available | 2024-09-19T12:18:53Z | |
| dc.date.issued | 2024 | |
| dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı | |
| dc.description.abstract | Introduction: Ataxia is one of the clinical findings of the movement disorder disease group. Although there are many underlying etiological reasons, genetic etiology has an increasing significance thanks to the recently developing technology. The aim of this study is to present the variants detected in WES analysis excluding non-genetic causes, in patients with ataxia. Methods: Thirty-six patients who were referred to us with findings of ataxia and diagnosed through WES or other molecular genetic analysis methods were included in our study. At the same time, information such as the onset time of the complaints, consanguinity status between parents, and the presence of relatives with similar symptoms were evaluated. If available, the patient’s biochemical and radiological test results were presented. Results: Thirty-six patients were diagnosed through WES or CES. The rate of detected autosomal recessive inheritance disease was 80.5%, while that of autosomal dominant inheritance disease was 19.5%. Abnormal cerebellum was detected on brain MRI images in 26 patients, while polyneuropathy was detected on EMG in eleven of them. While the majority of the patients were compatible with similar cases reported in the literature, five patients had different/additional features (variants in MCM3AP, AGTPBP1, GDAP2, and SH3TC2 genes). Conclusions: The diagnosis of ataxia patients with unknown etiology is made possible thanks to these clues. Consideration of a genetic approach is recommended in patients with ataxia of unknown etiology. | |
| dc.description.sponsorship | Afyonkarahisar Health Science University | en_US |
| dc.identifier.citation | Göğüs, B., Elmas, M. ve Türk Börü, Ü. (2024). Genetic aspects of ataxias in a cohort of Turkish patients. Neurological Sciences, 45(9), 4349-4365. http://dx.doi.org/10.1007/s10072-024-07484-x | |
| dc.identifier.doi | 10.1007/s10072-024-07484-x | |
| dc.identifier.endpage | 4365 | |
| dc.identifier.issn | 1590-1874 | |
| dc.identifier.issn | 1590-3478 | |
| dc.identifier.issue | 9 | |
| dc.identifier.pmid | 38587696 | |
| dc.identifier.scopus | 2-s2.0-85189632485 | |
| dc.identifier.scopusquality | Q1 | |
| dc.identifier.startpage | 4349 | |
| dc.identifier.uri | http://dx.doi.org/10.1007/s10072-024-07484-x | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12511/12814 | |
| dc.identifier.volume | 45 | |
| dc.identifier.wos | 001198553600003 | en_US |
| dc.identifier.wosquality | Q2 | |
| dc.indekslendigikaynak | Web of Science | |
| dc.indekslendigikaynak | Scopus | |
| dc.indekslendigikaynak | PubMed | |
| dc.institutionauthor | Elmas, Muhsin | |
| dc.language.iso | en | |
| dc.relation.ispartof | Neurological Sciences | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | |
| dc.rights | Attribution 4.0 International | * |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | * |
| dc.subject | Ataxia | |
| dc.subject | Genetics | |
| dc.subject | WES | |
| dc.title | Genetic aspects of ataxias in a cohort of Turkish patients | |
| dc.type | Article |
