Person: ERER ÖZBEK, ÇİĞDEM SEVDA
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ERER ÖZBEK
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ÇİĞDEM SEVDA
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Publication The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice(Wiley, 2021-01-15) Vural, Atay; Şimşir, Gülşah; Tekgül, Şeyma; Koçoğlu, Cemile; Akçimen, Fulya; Kartal, Ece; Şen, Nesli E.; Lahut, Suna; Ömür, Özgür; Şaner, Nazan; Gül, Tuğçe; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Çetinkaya, Caroline Pirkevi; Eken, Aslı Gündoğdu; Şahbaz, Irmak; Koç, Müge Kovancılar; Çakmak, Özgür Öztop; Hanağası, Haşmet; Bilgiç, Başar; Eraksoy, Mefkure; Gündüz, Ayşegül; Apaydın, Hülya; Kızıltan, Güneş; Özekmekci, Sibel; Siva, Aksel; Altıntaş, Ayşe; Güleç, Zeynep E. Kaya; Parman, Yeşim; Oflazer, Piraye; Deymeer, Feza; Durmuş, Hacer; Şahin, Erdi; Çakar, Arman; Tüfekcioğlu, Zeynep; Tektürk, Pınar; Çorbalı, M. Osman; Tireli, Hülya; Akdal, Gülden; Yis, Uluç; Hız, Semra; Şengün, İhsan; Bora, Elçin; Serdaroğlu, Gül; Özbek, Sevda Erer; Ağan, Kadriye; Günal, Dilek İnce; Us, Önder; Kurt, Semiha G.; Aksoy, Dürdane; Tokcaer, Ayşe Bora; Elmas, Muhsin; Gültekin, Murat; Kumandaş, Sefer; Acer, Hamit; Özçora, Gül D. Kaya; Yayla, Vildan; Soysal, Aysun; Genç, Gencer; Gülluoğlu, Halil; Kotan, Dilcan; Ayas, Zeynep Özözen; Şahin, Hüseyin A.; Tan, Ersin; Topcu, Meral; Topcuoğlu, Esen Saka; Akbostancı, Cenk; Koç, Filiz; Ertan, Sibel; Elibol, Bülent; Başak, A. Nazlı; ERER ÖZBEK, ÇİĞDEM SEVDA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; JGR-7854-2023Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations.Objective To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population.Methods Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed to screen for the trinucleotide repeat expansions in families with a dominant inheritance pattern, as well as in sporadic cases. The expansion in the frataxin (FXN) gene was tested in all autosomal recessive cases and in sporadic cases with a compatible phenotype. Whole-exome sequencing was applied to 251 probands, selected based on the family history, age of onset, and phenotype.Results Mutations in known ataxia genes were identified in 30% of 1296 probands. Friedreich's ataxia was found to be the most common recessive ataxia in Turkey, followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay. Spinocerebellar ataxia types 2 and 1 were the most common dominant ataxias. Whole-exome sequencing was performed in 251 probands with an approximate diagnostic yield of 50%. Forty-eight novel variants were found in a plethora of genes, suggesting a high heterogeneity. Variants of unknown significance were discussed in light of clinical data.Conclusion With the large sample size recruited across the country, we consider that our results provide an accurate picture of the frequency of hereditary ataxias in Turkey.Publication Statistical shape analysis of putamen in early-onset Parkinson's disease(Elsevier, 2021-10) Sığırlı, Deniz; Özdemir, Senem Turan; Erer, Sevda; Şahin, İbrahim; Ercan, İlker; Özpar, Rifat; Örün, Muhammet Okay; Hakyemez, Bahattin; SIĞIRLI, DENİZ; ERER ÖZBEK, ÇİĞDEM SEVDA; ERCAN, İLKER; ÖZPAR, RİFAT; HAKYEMEZ, BAHATTİN; Özdemir, Senem Turan; Şahin, İbrahim; Bursa Uludağ Üniversitesi/Tıp Fakültesi; 0000-0001-9031-3040; 0000-0002-3425-0740; 0000-0001-6649-9287; AAA-7472-2021; FPU-9468-2022; DVY-9744-2022; HII-7787-2022; ABF-2367-2020; AAH-5062-2021; AAI-2318-2021Objective: To investigate the shape differences in the putamen of early-onset Parkinson's patients compared with healthy controls and to assess and to assess sub-regional brain abnormalities. Methods: This study was conducted using the 3-T MRI scans of 23 early-onset Parkinson's patients and age and gender matched control subjects. Landmark coordinate data obtained and Procrustes analysis was used to compare mean shapes. The relationships between the centroid sizes of the left and right putamen, and the durations of disease examined using growth curve models. Results: While there was a significant difference between the right putamen shape of control and patient groups, there was not found a significant difference in terms of left putamen. Sub-regional analyses showed that for the right putamen, the most prominent deformations were localized in the middle-posterior putamen and minimal deformations were seen in the anterior putamen. Conclusion: Although they were not as pronounced as those in the right putamen, the deformations in the left putamen mimic the deformations in the right putamen which are found mainly in the middle-posterior putamen and at a lesser extend in the anterior putamen.Publication The role of the dopamine β-hydroxylase functional polymorphism in patients with early-onset parkinson's disease in the Turkish population(Turkish Neurological Soc, 2021-03-01) Erer, Sevda; Eryılmaz, Işıl Ezgi; Çolak, Dilara Kamer; Egeli, Ünal; Çeçener, Gülşah; Tunca, Berrin; Karakuş, Ece; Çolakoğlu, Beril; Tokçaer, Ayşe Bora; Saka, Esen; Demirkıran, Meltem; Akbostancı, Cenk; Zarifoğlu, Mehmet; Doğu, Okan; Kaleagasi, Hakan; Kenangil, Gülay; Çakmur, Raif; Elibol, Bülent; ERER ÖZBEK, ÇİĞDEM SEVDA; ERYILMAZ, IŞIL EZGİ; Çolak, Dilara Kamer; EGELİ, ÜNAL; ÇEÇENER, GÜLŞAH; TUNCA, BERRİN; Karakuş, Ece; ZARİFOĞLU, MEHMET; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi.; 0000-0001-7904-883X; 0000-0002-3316-316X; 0000-0002-2274-3230; 0000-0003-4968-2826; 0000-0002-3820-424X; 0000-0002-1619-6680; 0000-0003-2982-0961; GWV-3548-2022; AAH-1420-2021; DVY-9744-2022; JIP-4494-2023; AAP-9988-2020; ABI-6078-2020; FDA-2023-2022; EHN-5825-2022Objective: A functional single nucleotide polymorphism, rs1611115, in the dopamine beta-hydroxylase (DBH) gene, is reported to regulate plasma enzyme activity levels. Mere, we report the first evaluation of this association in patients with early-onset Parkinson's disease (EOPD) and healthy controls in the Turkish population.Materials and Methods: We evaluated the DBH rs1611115 polymorphism in 114 (64 male and 50 female) Turkish patients with EOPD and 58 sex- and age-matched healthy controls from the Turkish population. A total of 27.2% (n=31) of our patients who had any variation including pathogenic or non-pathogenic missense, non-sense and/or intronic variation with unknown significance in EOPD genes were grouped as "variation-positive EOPD". A total of 50.8% (n=58) of our patients were grouped as "variation and family history-negative EOPD" and the possible contribution of the DBH rs1611115 polymorphism to EOPD pathogenesis was evaluated in this group.Results: There was no significant difference in the genotypic and allelic frequencies of DBH rs1611115 between patients with EOPD and controls. To our knowledge, this is the first evaluation of the DBH rs1611115 polymorphism in patients with EOPD and ethnically matched controls in the Turkish population.Conclusion: Some previous studies have reported conflicting association results between DBH rs1611115 polymorphism and PD pathogenesis in different ethnic groups. Therefore, further studies are needed to evaluate dopamine metabolism-related generic variants and to determine their possible roles in EOPD susceptibility in the Turkish population.Publication Multicenter study of levodopa carbidopa intestinal gel in parkinson's disease: The Turkish experience(Tubitak Scientific & Technological Research Council Turkey, 2020-01-01) Gultekin, Murat; Ulukan, Cagri; Tezcan, Sabiha; Dogu, Okan; Hanagasi, Hasmet; Bilgic, Basar; Bora Tokcaer, Ayse; Cakmur, Raif; Elibol, Bulent; Mirza, Meral; Ince Gunal, Dilek; Kenangil, Gulay; Yilmaz Kusbeci, Ozge; Akbostanci, Muhittin Cenk; Erer Ozbek, Cigdem Sevda; ERER ÖZBEK, ÇİĞDEM SEVDA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.Background/aim: Our purpose was to determine the efficacy of levodopa carbidopa intestinal gel (LCIG) in a series of Turkish patients with Parkinson's disease (PD).Materials and methods: We had telephone calls with 54 patients from 11 neurology centers who were on LCIG treatment, and 44 patients or their caregivers were included in an eight-item survey between September 2015 and June 2016. The reliability and validity of the survey were evaluated with intraclass correlation coefficients for every question separately.Results: Average age of the patients were 63.48 and the duration of PD was 12.79 years. Average LCIG treatment period was 15.63 months. Percentages of the patients who reported they were 'better' after LCIG treatment were as follows: 80% for time spent off, 55% for dyskinesia, 65% for tremor, 85% for gait disorder, 50% for pain, 50% for sleep disorders, 42.5% for depression, 32.5% for incontinence, and 70% for activities of daily living. Cronbach's alpha was 0.795 and the intraclass correlation coefficient was reliable for the items.Conclusion: As detected by a survey performed by telephone calls with good interrater reliability, patients with PD improve with LCIG treatment in many aspects of the disease.Publication Contribution of functional dopamine D2 and D3 receptor variants to motor and non-motor symptoms of early onset Parkinson's disease(Elsevier, 2020-09-28) Eryılmaz, Işıl Ezgi; Erer, Sevda; Zarifoğlu, Mehmet; Egeli, Ünal; Karakuş, Ece; Yurdacan, Beste; Çeçener, Gülşah; Tunca, Berrin; Çolakoğlu, Beril; Tokcaer, Ayşe Bora; Saka, Esen; Demirkıran, Meltem; Akbostancı, Cenk; Doğu, Okan; Kaleağası, Hakan; Kenangil, Gülay; Çakmur, Raif; Elibol, Bülent; ERYILMAZ, IŞIL EZGİ; ERER ÖZBEK, ÇİĞDEM SEVDA; ZARİFOĞLU, MEHMET; EGELİ, ÜNAL; Karakuş, Ece; Yurdacan, Beste; ÇEÇENER, GÜLŞAH; TUNCA, BERRİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi.; 0000-0002-3316-316X; 0000-0001-7904-883X; 0000-0002-3820-424X; 0000-0002-1619-6680; GWV-3548-2022; DVY-9744-2022; EHN-5825-2022; AAH-1420-2021; FDA-2023-2022; AEA-0144-2022; AAP-9988-2020; ABI-6078-2020In the present study, we focused on investigating the contribution of functional dopamine D2 and D3 receptor variants to motor and/or non-motor symptoms of early onset Parkinson's disease (EOPD). Three functional single nucleotide polymorphisms (SNPs), DRD3 rs6280, DRD2 rs2283265 and DRD2 rs1076560, were genotyped in 128 Turkish EOPD patients and then, statistical analysis was conducted for the potential impacts of SNPs on clinical parameters. All three SNPs were found to be statistically significant in terms of PD-related pain: DRD3 [rs6280; risk allele "T" for pain; p = 0.031; odds ratio (OR)=4.25], DRD2 [rs2283265; risk allele "A" for pain; p = 0.001; OR=8.47] and, DRD2 [rs1076560; risk allele "A" for pain; p = 0.022; OR=4.58]. Additionally, bilateral disease [p = 0.011; OR=5.10] and gender [risk group "female"; p = 0.003; OR=8.53] were also identified as significant univariate risk factors for PD-related pain. Based on logistic regression analysis conducted with the significant univariate risk factors, this the first report to clarify that a female patient with bilateral PD and DRD2 rs2283265 polymorphism has a significant risk for PD-related pain. Our findings might contribute to improve life quality by offering treatment options for pain in PD patients with these clinical and genetic features.Publication Apomorphine in the treatment of parkinson's disease(Türk Nöroloji Derneği, 2021-12-01) Ozkan, Serhat; Elibol, Bulent; Ozkaynak, Sehur Sibel; Cakmur, Raif; Akbostanci, Muhittin Cenk; Hanagasi, Hasmet; Dogu, Okan; Erer, Sevda; ERER ÖZBEK, ÇİĞDEM SEVDA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; 0000-0002-2274-3230; G-9559-2014Apomorphine is a dopamine agonist used in the treatment of some motor and non-motor complications during Parkinson's disease, which could be administered as an intermittent or continuous infusion. Although apomorphine treatment has been shown to be effective on motor fluctuations and dyskinesias, there is no sufficient consensus regarding the administration of apomorphine test or infusion, and the management of the treatment. In this review, our aim is to create a "treatment management guideline," which includes recommendations for the use of apomorphine in the clinical practice, and to discuss the problems encountered in both intermittent and continuous infusion applications, in the light of the literature.Publication Evaluation of the effects of botulinum toxin therapy on the clinical characteristics of pain and pain threshold value in patients with primary cervical dystonia(Journal Neurological Sciences, 2015-01-01) Özbek, Sevda Erer; Karlı Necdet; Yurtoğulları, Şükran; Zarifoğlu, Mehmet; Ocakoğlu, Gökhan; ERER ÖZBEK, ÇİĞDEM SEVDA; KARLI, HAMDİ NECDET; YURTOĞULLARI, ŞÜKRAN; ZARİFOĞLU, MEHMET; OCAKOĞLU, GÖKHANObjective: In 70% of patients with cervical dystonia (CD), the clinical presentation includes the symptom of pain. In this study, we aimed to define the types and clinical characteristics of the pain and to investigate whether this pain is a result of central sensitization by evaluating pre- and post-botulinum toxin (BoNT) treatment pain threshold values using electrical stimulation.Methods: The study enrolled a total of 35 patients with CD who received BoNT therapy. The patients were evaluated using the pain evaluation scale and Unified Dystonia Rating scale (UDRS) before and after BoNT therapy. The pain threshold values obtained from dystonic muscles, the contiguous or contralateral muscle without dystonic activity and a normal reference muscle with distant localization were recorded through electrical stimulation with EMG guidance, and all values obtained before and after BoNT therapy were compared.Results: No difference was found between the pain threshold values obtained from dystonic muscles before and after treatment. While no difference was observed across genders or VAS groups in terms of pain threshold values, the UDRS (duration and motor severity factor) scores showed significant decreases after treatment with BoNT in patients with painful dystonia and in patients with painless dystonia.Conclusions: The absence of a difference in pre- and post-BoNT treatment pain threshold values in dystonic muscles might be explained by the absence of central sensitization. Pain relief in dystonic patients might occur secondary to decreases in dystonic muscle contractions.Publication A case of hyperkinetic movement disorder associated with lgi1 antibodies(Turkish J Pediatrics, 2015-09-01) Erer-Özbek, Sevda; Yapıcı, Zühal; Tüzün, Erdem; Giriş, Murat; Duran, Selcen; Taşkapılioğlu, Özlem; Okan, Mehmet; ERER ÖZBEK, ÇİĞDEM SEVDA; Duran, Selcen; Taşkapılioğlu, Özlem; Okan, Mehmet; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; 0000-0001-7553-2034; EUN-3732-2022; JZJ-9352-2024; AAK-6623-2020; IMZ-1723-2023Encephalitis associated with leucine-rich glioma inactivated 1 (LGI1) antibodies is often encountered in elderly male patients and may infrequently present with isolated syndromes. A 6-year-old boy was admitted with acute onset severe oral and facial stereotypic and choreiform movements. On his neurologic examination, he had repetitive and rhythmic movements in orolingual muscles including tongue protrusion, limb chorea and minimal facial stereotypic movements. Anti-streptolysin O (ASO) titers were found severely elevated in several measurements. Well-characterized antibodies against ion channels and synapse proteins were negative whereas LGI1 antibody was positive in both serum and CSF. Marked clinical improvement was observed after immunotherapy. Here, we present the first pediatric case with LGI1 antibody associated hyperkinetic movement disorders and emphasize the importance of investigating neuronal autoantibodies in patients with isolated and treatment resistant movement disorders.Publication Association of brain volume and cognition in the chronic and episodic migraine patients(Sage Publications, 2013-06-01) Zarifoğlu, Mehmet; Şener, D. K.; Karlı, Nejdet; Hakyemez, Bahattin; Taşkapılıoğlu, Özlem; Özbek, Sevda Erer; Bakar, Mustafa; ZARİFOĞLU, MEHMET; Şener, D. K.; KARLI, HAMDİ NECDET; HAKYEMEZ, BAHATTİN; Taşkapılıoğlu, Özlem; ERER ÖZBEK, ÇİĞDEM SEVDA; BAKAR, HACI MUSTAFA; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Bölümü; 0000-0003-4436-3797; AAI-2318-2021; AAK-6623-2020; EHN-5825-2022; IOZ-7564-2023; CXD-7623-2022; DLN-1836-2022; EKN-8251-2022