Researcher: Ertan, Fatoş Sibel
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Ertan, Fatoş Sibel
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Publication Metadata only Evaluation of cognitive functions in patients with essential tremor, Parkinson's disease, and combination of essential tremor-Parkinson's disease(Nobel İlaç, 2023) Demiray, Derya Yavuz; Ertan, Fatoş Sibel; ; School of Medicine;Objective: Essential Tremor (ET) has become a clinical spectrum with motor and non-motor elements rather than a mono-symtomatic condition with motor features. In many studies more than expected mild cognitive deficits have been observed in ET patients and increased incidence and prevelance of dementia is pointed to attention. In postmortem studies as well as cerebellar degeneration, Lewy bodies were identified in locus ceruleus in brain stem and increased risk and coexistence of Parkinson's Disease (PD) has been observed in ET patients. In this study, we planned to investigate the possible presence of cognitive dysfunction in patients with ET, ET-PD and PD patients compared with the control group.Material and Method: Patients with ET, ET-PD and PD and age-matched healthy control group were included to our study. Twenty patients from each patient group and 13 people from control group with the age range of 40-80 were included. Detailed neurocognitive battery and for scanning Geriatric Depression Scale was applied to patients and control group who were examined by two different neurologists.Results: Significant differences were observed in the visual and verbal memory, attention, executive functions and verbal fluency tests in which the control and patient groups compared. As a result of comparison of the patient groups with no differences in terms of age, gender and education, especially complex attention was found to be statistically impaired in PD compared to ET. Personal and actual information, visual memory, simple and complex attention, abstract thinking, executive functions were increasingly getting worse by order of ET, ET-PD and PD.Conclusion: It suggests that ET is also associated with a deficit of multiple catecholaminergic pathways, including fronto-subcortical pathways like PD. However, in order to understand the ET-PH relationship and the mechanism of cognitive abnormalities more clearly, detailed clinical follow-up and long-term studies involving more patients and control groups and histopathological examinations are required.Publication Metadata only Author Correction: Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)(Nature Research, 2023) Lange, Lara M.; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Keller Sarmiento, Ignacio J.; Tan, Ai-Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih-Hua; Heutink, Peter; Kumar, Kishore R.; Lim, Shen-Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Rentería, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozco, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Höglinger, Günter; Trinh, Joanne; Lange, Lara M.; Sharma, Manu; Groppa, Sergio; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Kp, Divya; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krüger, Rejko; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Ibrahim, Norlinah Mohamed; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Pérez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan O.; Pihlstrøm, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Mubarak, Bashayer Al; Umair, Muhammad; Tan, Eng-King; Foo, Jia Nee; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Periñan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Zweier, Christiane; Paul, Krack; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Serena; Wu, Yihru; Amouri, Rim; Sassi, Samia Ben; Başak, A. Nazl; Genc, Gencer; Çakmak, Özgür Öztop; Ertan, Sibel; Noyce, Alastair; Martínez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaitye, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O’Grady, Alyssa; Singleton, Andrew B.; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Vitale, Dan; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Leonard, Hampton; Iwaki, Hirotaka; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Kim, Jonggeol Jeff; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Makarious, Mary B.; Koretsky, Mathew; Inca-Martinez, Miguel; Nalls, Mike A.; Louie, Naomi; Mencacci, Niccolò Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Bandres-Ciga, Sara; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip; Başak, Ayşe Nazlı; Çakmak, Özgür Öztop; Ertan, Fatoş Sibel; ; School of Medicine;Correction to: npj Parkinson’s Disease, published online 27 June 2023 In this article the Global Parkinson’s Genetics Program (GP2) members names and affiliations were missing in the main author list of the Original article which are listed in the below. © 2023, Springer Nature Limited.Publication Metadata only Reliability and validity of the Turkish version of the 39-item parkinson disease questionnaire(Literatura Medica, 2023) Dereli, Elif Elçin; Kayapınar Aylak, Emine Eda; Bilge, Tuba Kayapınar; Çakmak, Özgür Öztop; Ertan, Fatoş Sibel; Taşkıran, Özden Özyemişçi; ; School of Medicine; Koç University HospitalBackground and purpose - This study aims to investigate the validity and reliability of the Turkish Version of the 39-item Parkinson Disease Questionnaire. Methods - A total of 100 patients with Parkinson's disease who were admitted to the outpatient neurology clinic in Koc University and Istanbul University were enrolled. 39-item Parkinson Disease Questionnaire, Parkinson Disease Quality of Life Questionnaire, Unified Parkinson's Disease Rating Scale, Hoehn-Yahr Scale, and Short Form Health Survey-36 were administered to all participants. 39-item Parkinson Disease Questionnaire was repeated 2 weeks later. Results - The internal consistency coefficient of the 39-item Parkinson Disease Questionnaire was 0.957. Test-retest correlation ranged between r = 0.693-0.979. Reliability of Turkish version of the 39-item Parkinson Disease Questionnaire was found to be very high with the exclusion of one item (30(th) item). The scale was found to be consistent over time and correlated positively with Hoehn-Yahr Scale, and negatively with Unified Parkinson's Disease Rating Scale, Parkinson Disease Quality of Life Questionnaire, and Short Form Health Survey-36. Conclusion - Turkish version of the 39-item Parkinson Disease Questionnaire, with the exclusion of the 30th item can be used reliably in assessing the quality of life of Parkinson's patients.Publication Metadata only Altered transcriptional profile of mitochondrial DNA-Encoded OXPHOS subunits, mitochondria quality control genes, and intracellular ATP levels in blood samples of patients with Parkinson's disease(Ios Press, 2020) Gezen-Ak, Duygu; Alaylioglu, Merve; Genc, Gencer; Sengul, Busra; Keskin, Ebru; Sordu, Pelin; Gulec, Zeynep Ece Kaya; Apaydin, Hulya; Bayram-Gurel, Cigdem; Ulutin, Turgut; Yilmazer, Selma; Dursun, Erdinc; N/A; Ertan, Fatoş Sibel; Faculty Member; School of Medicine; 112829Mitochondrial dysfunctions are significant contributors to neurodegeneration. One result or a cause of mitochondrial dysfunction might be the disruption of mtDNA transcription. Limited data indicated an altered expression of mtDNA encoded transcripts in Alzheimer's disease (AD) or Parkinson's disease (PD). The number of mitochondria is high in cells with a high energy demand, such as muscle or nerve cells. AD or PD involves increased risk of cardiomyopathy, suggesting that mitochondrial dysfunction might be systemic. If it is systemic, we should observe it in different cell types. Given that, we wanted to investigate any disruption in the regulation of mtDNA encoded gene expression in addition to PINK1, PARKIN, and ATP levels in peripheral blood samples of PD cases who are affected by a neurodegenerative disorder that is very well known by its mitochondrial aspects. Our results showed for the first time that: 1) age of onset > 50 PD sporadic (PDS) cases: mtDNA transcription and quality control genes were affected; 2) age of onset <50 PDS cases: only mtDNA transcription was affected; and 3) PD cases with familial background: only quality control genes were affected. mtDNA copy number was not a confounder. Intracellular ATP levels of PD case subgroups were significantly higher than those of healthy subjects. We suggest that a systemic dysregulation of transcription of mtDNA or mitochondrial quality control genes might result in the development of a sporadic form of the disease. Additionally, ATP elevation might be an independent compensatory and response mechanism. Hyperactive cells in AD and PD require further investigation.Publication Metadata only Low levels of LRRK2 gene expression are associated with LRRK2 SNPs and contribute to Parkinson's disease progression(Humana Press Inc, 2021) Yilmazer, Selma; Candas, Esin; Genc, Gencer; Alaylioglu, Merve; Sengul, Busra; Gunduz, Aysegul; Apaydin, Hulya; Kiziltan, Gunes; Dursun, Erdinc; Gezen-Ak, Duygu; N/A; Ertan, Fatoş Sibel; Faculty Member; School of Medicine; 112829Parkinson's disease (PD) is a chronic neurodegenerative disease that has relatively slow progression with motor symptoms.Leucine-rich repeat kinase 2 (LRRK2)gene mutations and polymorphisms are suggested to be associated with PD. In this study, we aimed to investigate the association between single-nucleotide polymorphisms (SNPs) of theLRRK2gene, namely, rs11176013, rs10878371, rs11835105, and PD. Genotypes of 132 PD cases and 133 healthy individuals were determined by qRT-PCR. Haplotype analysis was performed. Additionally,LRRK2mRNA expression levels were determined in 83 PD cases and 55 healthy subjects. The relationship betweenLRRK2mRNA levels, the target SNPs, and clinical data was also investigated. Our results indicated that the "GG" genotype and "G" allele of rs11176013 and the "CC" genotype and "C" allele of rs10878371 were more frequent in cases. The "GCG" haplotype was significantly more frequent in cases.LRRK2mRNA expression levels in patients were significantly lower than those in healthy individuals. The patients with the "CC" genotype for rs10878371 and the "GG" genotype for rs11176013 had decreasedLRRK2mRNA levels. We found that the rs11176013 "GG" genotype and the rs10878371 "CC" genotype were less frequently seen in cases with akinetic rigid or combined akinetic rigid and tremor-dominant initial symptoms. Consequently, our results demonstrate that the rs11176013 and rs10878371 polymorphisms are associated with PD in a Turkish cohort, and moreover, these results suggest that these polymorphisms may affect the expression of theLRRK2gene and disease progression and thus play a role in the pathogenesis of PD.Publication Metadata only Acute-onset hemiparkinsonism secondary to subacute-chronic subdural hematoma(Turkish Neurosurgical Soc, 2022) Özekmekçi, Sibel; Şenel, Gülçin Benbir; N/A; Ertan, Fatoş Sibel; Çakmak, Özgür Öztop; Peker, Selçuk; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; 112829; 299358; 11480Subdural hematomas constitute rare causes of secondary Parkinsonism in elderly. Subacute or chronic subdural hematomas occur in the elderly following minor head trauma or even without a remarkable history of trauma. A 69-year-old woman admitted with a rapidly progressive acute-onset hemiparkinsonism on the left side of her body. She denied any precipitating event before the onset of her symptoms, and her medical history was unremarkable. The anti-Parkinsonian therapy showed no benefit, but gradually worsening of the symptoms was observed. Her brain magnetic resonance imaging revealed a large subacute-chronic subdural hematoma on the right side with a mass effect on the basal ganglia structures, contralateral to her symptomatology. On thorough questioning, she confessed to having fallen out of the bed at night almost four weeks ago, three-weeks before the onset of her symptomatology. She had no complications associated with this fall and merely remembered this event. She denied any history of rapid eye movements (REM) sleep behavior disorder. The anti-Parkinsonian treatment was discontinued; the subdural hematoma was evacuated via burr hole drainage surgery. Her symptoms disappeared instantly after the surgery, with a normal neurologic examination one week after the surgery.Publication Metadata only Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants(Elsevier Ltd, 2023) Usnich, Tatiana; Olmedillas, Maria; Schell, Nathalie; Paul, Jefri J.; Curado, Filipa; Skobalj, Snezana; Csoti, Ilona; Gruber, Doreen; Zittel, Simone; Sammler, Esther; Isaacson, Stuart H.; Kühn, Andrea A.; Pedrosa, David J.; Reetz, Kathrin; Kasten, Meike; Rolfs, Arndt; Bauer, Peter; Skrahina, Volha; Klein, Christine; Brüggemann, Norbert; Ertan, Fatoş Sibel; Faculty Member; School of Medicine; 112829N/APublication Metadata only Anticorrosion efficiency of ultrasonically deposited silica coatings on titanium(Elsevier Science Bv, 2013) N/A; N/A; Department of Chemistry; N/A; Department of Chemistry; Ertan, Fatoş Sibel; Kaş, Recep; Miko, Annamaria; Birer, Özgür; Master Student; Master Student; Teaching Faculty; Researcher; Graduate School of Sciences and Engineering; Graduate School of Sciences and Engineering; College of Sciences; N/A; Koç University Surface Science and Technology Center (KUYTAM) / Koç Üniversitesi Yüzey Teknolojileri Araştırmaları Merkezi (KUYTAM); N/A; N/A; 163509; N/AWe utilized high intensity ultrasound to prepare coatings of silica and organically modified silica composed of multiple layers of densely packed nanoparticles. Ultrasound was used to collide nanoparticles onto an activated titanium surface with high speed. Large areas could be homogeneously coated by this method. These coatings were characterized by spectroscopy and microscopy methods and the anticorrosion efficiency in NaCl solution was evaluated by electrochemical measurements. The results indicated that the composite coatings provided good quality barrier layer on bare titanium and decreased the anodic corrosion rate. It was found that increase in the organic content of the coating shifted the passivation potential towards more positive direction. The comparison of the impedance results recorded at the corrosion potential pointed out that in each case a good quality barrier layer was formed on the titanium surface. The outstanding corrosion resistance of the composite coatings with only similar to 200 nm thickness shows that ultrasound assisted deposition can be a competitive method to obtain corrosion protective layers. (c) 2013 Elsevier B.V. All rights reserved.Publication Metadata only Jumping stump(N/A, 2020) N/A; N/A; Çakmak, Özgür Öztop; Eren, İlker; Aygün, Murat Serhat; Özer, Fahriye Feriha; Ertan, Fatoş Sibel; Faculty Member; Faculty Member; Teaching Faculty; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; 299358; 168021; 291692; N/A; 112829N/APublication Metadata only Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family(Springer, 2020) Kaya-Güleç, Zeynep Ece; Genç, Gencer; N/A; Palvadeau, Robin Jerome; Şimşir, Gülşah; Vural, Atay; Çakmak, Özgür Öztop; Aygün, Murat Serhat; Falay, Fikri Okan; Başak, Ayşe Nazlı; Ertan, Fatoş Sibel; Researcher; Master Student; Faculty Member; Faculty Member; Teaching Faculty; Teaching Faculty; Faculty Member; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Graduate School of Sciences and Engineering; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; N/A; N/A; 182369; 299358; 291692; 246484; 1512; 112829SCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on the STUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) was performed. Brain magnetic resonance imaging (MRI), including DTI, and single-photon emission computed tomography (SPECT) were used to study the primarily affected tracts and regions. WES revealed the previously reported heterozygous truncating mutation in ubiquitin ligase domain of STUB1 (ENST00000219548:c.823_824delCT, ENSP00000219548:p.L275Dfs*16) leading to a frameshift. Patient's cognitive status was compatible with CCAS. Novel clinical features different from the original report include later onset chorea, dystonia, general slowness of movements, apraxia, and palilalia, some of which have been recently reported in two families with different STUB1 mutations. CCAS is a prominent and often early feature of SCA48 which may be followed years after the onset of the disease by other complex neurological signs and symptoms. DTI may be helpful for demonstrating the cerebello-frontal tracts, involved in CCAS-associated SCA48, the differential diagnosis of which may be challenging especially in its early years.
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