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Permanent URI for this collectionhttps://hdl.handle.net/20.500.14288/3
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Publication Metadata only Clinical results of anterior odontoid screw fixation for type II odontoid fractures(Turkish Neurosurgical Society, 2014) Keskin, Fatih; Gomleksiz, Cengiz; Sasani, Mehdi; Oktenoglu, Tunc; Suzer, Tuncer; Özer, Ali Fahir; Faculty Member; School of Medicine; 1022AIM: In this study, 31 patients with a diagnosis of Type II odontoid fractures were reported. All patients were treated with anterior transodontoid screw fixation and clinical outcomes were reported. MATERIAL and METHODS: In this study, the retrospective clinical analysis of 31 patients with traumatic type II odontoid fractures who were treated through anterior transodontoid fixation in Neurosurgery Department at VKV American Hospital between 1998 and 2012 was performed. The age, sex, cause of injury, diagnosis time, neurological examination before and after surgery, follow-up period were evaluated. The neurological status of patients was classified according to the Frankel scale. RESULTS: In 4 patients, 2 transodontoid screws were inserted. The mean hospital stay was 3.35 days. Posterior occipito-cervical fusion was done in 1 patient due to the lack of fusion in the first operation. No vascular injury, screw malposition, infection, neurologic deterioration, or complications were observed during the peroperative and postoperative stage. The mean postoperative follow-up period was 36 months after surgery. Radiological imaging of patients were performed at the early and late postoperative stage. CONCLUSION: We found satisfying fusion rates and better patient comfort during the postoperative period. We think that stabilization and fusion through a transodontoid screw is a minimal invasive method.AMAÇ: Çalışmada, Tip II odontoid fraktürü tanısı alan 31 olgu bildirilmiştir. Olguların hepsi anterior transodontoid vida fiksasyonu ile tedavi edilmiş ve klinik sonuçları bildirilmiştir. YÖNTEM ve GEREÇLER: Çalışma, VKV Amerikan Hastanesi Nöroşirürji Bölümü’nde 1998-2012 yılları arasında travmatik tip II odontoid kırığı nedeniyle anterior transodontoid fiksasyon ile cerrahi tedavi uygulanan 31 hastanın retrospektif klinik analizleri yapılmıştır. Tüm olguların yaş, cinsiyet, travma nedeni, teşhis zamanı, cerrahi girişim öncesi ve sonrasında nörolojik muayeneleri, takip süresi değerlendirilmiştir. Olguların nörolojik durumları Frankel skalasına göre sınıflandırılmıştır. BULGULAR: Dört hastaya 2 adet transodontoid vidası yerleştirildi. Hastanede kalış süresi ortalama 3,35 gün idi. 1 hastada postop takibinde füzyon oluşmaması nedeniyle ikinci bir operasyon ile posteriordan oksipitoservikal füzyon yapıldı. İşlem sırasında ve sonrasında damar yaralanması, vida malpozisyonu, enfeksiyon, nörolojik bozulma gibi komplikasyonlar izlenmedi. Hastalar ameliyat sonrasında ortalama 36 ay takip edildi. Hastaların erken ve geç dönemde radyolojik görüntülemeleri yapıldı. SONUÇ: Postoperatif dönemde hastaların takiplerinde tatmin edici füzyon oranı ve hasta konforunun daha iyi olduğunu saptadık. Tip II odontoid kırıklarının cerrahi tedavisinde minimal invaziv yöntem olan transodontoid vida ile fiksasyonun yüksek avantajlarından dolayı ilk seçenek olabileceğini düşünüyoruz.Publication Metadata only Dynamic stabilization of the lumbar spine using the Dynesys® system(Turkish Neurosurgical Soc, 2020) Cevik, Orhun Mete; Akyoldaş, Göktuğ; Süzer, Süleyman Tuncer; Sasani, Mehdi; Öktenoğlu, Bekir Tunç; Özer, Ali Fahir; Faculty Member; Faculty Member; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; 203677; 221691; 219451; 220898; 1022AIM: To present the clinical results in patients with minor instability with "Dynesys (R)"a soft spinal stabilization system. Material and Methods: A total of 83 patients were operated upon and the Dynesys (R) system was applied. Indications for surgery included painful degenerative disc disease, degenerative spondylolisthesis and lumbar canal stenosis. Results: The results for the Dynesys (R) system were satisfactory, and we have calculated the overall complication rate to be 20.4% (n=17), which is in agreement with the literature. Conclusion: The Dynesys (R) dynamic stabilization system effectively protects lumbar motion and achieves lumbar stability in patients with lumbar spinal problems. Our clinical result support literature that Dynesys (R) system is a strong alternative to fusion and instrumentation system in patient with chronic instabilities.Publication Metadata only Gamma knife radiosurgery for hemorrhagic brainstem cavernomas(Turkish Neurosurgical Soc, 2019) Üçüncü Kefeli, Ayşegül; Şengöz, Meriç; N/A; Peker, Selçuk; Faculty Member; School of Medicine; Koc University Hospital; 11480AIM: To assess treatment results of gamma knife radiosurgery (GKRS) for hemorrhagic brainstem cavernous malformations (BSCMs). MATERIAL and METHODS: A retrospective review of patients with hemorrhagic BSCMs, who were treated at the Acibadem Kozyatagi Hospital GKRS unit from May 2007 to October 2015 was performed. RESULTS: In total, 82 patients were identified. All patients had experienced at least one hemorrhagic event (range 1-3), and all of them presented with radiological evidence of hemorrhage. The median target volume was 0.3 ml, and the median marginal radiation dose was 12 Gy. The mean durations before and after surgery were 25.5 (range 1-204) months, and 50.3 (range 13-113) months, respectively. Pre-treatment hemorrhage rates were calculated from the date of first hemorrhage to the date of radiosurgery. There were 97 bleeds over 174.4 patient-years during the observation period, with an annual hemorrhage rate of 55.7%. If the first bleed is excluded, the annual hemorrhage rate was 8.6%. Only three patients demonstrated re-bleeding, which occurred at 3, 12 and 79 months after radiosurgery. Over a total follow up time of 344 patient-years the annual re-bleeding rate was therefore 0.87%, indicating that the risk of BSCM hemorrhage was significantly decreased by radiosurgery. CONCLUSION: GKRS was a safe and effective treatment for symptomatic low volume BSCMs when a low marginal dose is used. A randomized controlled trial is needed that compares GKRS to observation if we want to establish the true efficacy of this treatment.Publication Metadata only Complications of 2-level dynamic stabilization: a correlative clinical and radiological analysis at two-year follow-up on 103 patients(2018) Yılmaz, Atilla; Erbulut, Deniz Ufuk; N/A; Çıplak, Necati Mert; Süzer, Süleyman Tuncer; Şentürk, Salim; Yaman, Onur; Sasani, Mehdi; Öktenoğlu, Bekir Tunç; Özer, Ali Fahir; Doctor; Doctor; Doctor; Doctor; Faculty Member; Faculty Member; Faculty Member; N/A; N/A; N/A; N/A; School of Medicine; School of Medicine; School of Medicine; Koc University Hospital; N/A; 221691; N/A; 219524; 219451; 220898; 1022AIM: To investigate the postoperative complications, such as screw loosening, screw breakage and adjacent segment disease (ASD), in patients who underwent surgery with 2-level dynamic stabilization systems. MATERIAL and METHODS: Postoperative complications, clinical improvements and radiological parameters in patients who underwent surgery using a dynamic system for 2-level lumbar stabilization were retrospectively reviewed. A total of 103 patients with lumbar degenerative spinal instability underwent 2-level dynamic stabilization. Clinical findings were reviewed at 2-year follow-up. Screw breakage and loosening were evaluated during this duration together with clinical findings. ESULTS: Visual analog scale (VAS) and Oswestry Disability Index (ODI) scores were significantly decreased at the four-month evaluation, and they were also decreased at the 1-year follow up and at the 24th postoperative month. ASD was diagnosed in twelve (8 females, 4 males) of the 103 patients in the follow-up radiological and clinical controls. There were 9 screw breakages and 4 screw loosening cases. The complication rate of 2-level dynamic stabilization was high in this study. CONCLUSION: Our results showed that complications (screw loosening or breakage and adjacent segment disease) are not rare after 2-level dynamic stabilization, unlike the acceptable results with the single-level dynamic system. The most probable explanation is that the instrument system behaves more rigidly with every additional segment.Publication Metadata only Posterior dynamic stabilization for the treatment of patients with lumbar degenerative disc disease: long-term clinical and radiological results(Turkish Neurosurgical Soc, 2013) Canbay, Suat; Aydin, Ahmet Levent; Aktas, Elif; Erten, Serhat Fuat; Basmaci, Mehmet; Sasani, Mehdi; Özer, Ali Fahir; Faculty Member; School of Medicine; 1022AIM: Comparison of long-term preoperative and postoperative clinical and radiological results for patients diagnosed with degenerative disc disease that underwent posterior dynamic stabilization. Lumbar disc degeneration is caused by a variety of factors. Disruptions in the vertebral endplate result in defects in disc nutrition and, thus, disc degeneration. The aims of dynamic stabilization are to unload the disc/facet joints, preserve motion under mechanical load, and restrict abnormal motion in the spinal segment. MATERIAL and METHODS:Twenty-five patients diagnosed with lumbar degenerative disc disease were enrolled.Totally, 25 vertebral segments were subjected to posterior dynamic stabilization. Patients were clinically evaluated in the preoperative and postoperative periods using the Oswestry Disability Index (ODI) and Visual Analog Scale (VAS). Segmental movement was evaluated radiologically in the late postoperative period by measuring the segmental angles during flexion and extension. RESULTS: Significant postoperative improvements were observed in the ODI and VAS measurements (P<0.01). During the long postoperative period (averaging 5 years and 2 months), lumbar lordosis angles, intervertebral space ratio and segmental ratio were measured and compared statistically. Adjacent segment disease developed in two patients. Both patients received L5-S1 discectomy. CONCLUSION: Good clinical outcomes were observed in the treatment of lumbar degenerative disc disease with a posterior dynamic system. / AMAÇ: Dejeneratif disk hastalığı tanısı almış ve posterior dinamik stabilizasyon sistemi uygulanmış hastaların uzun dönem preoperatif ve postoperatif klinik ve radyolojik sonuçlarının karşılaştırılması. Lomber dejeneratif disk hastalığına birçok etken sebep olur. Bu etkenler sonuç olarak omurga son plaklarında dejenerasyona ve disk dokusunun beslenmesinin bozulmasına yol açar. Dinamik stabilizasyon sistemleri, omurlar arasındaki hareketi korurken, disk ve faset eklemleri üzerindeki aşırı yüklenmeyi azaltır, aynı zamanda da omurga segmentindeki anormal hareketlenmeyi önler. YÖNTEM ve GEREÇLER: Bu çalışmada, dejeneratif disk hastalığı tanısı konmuş 25 hasta ele alınmıştır. Toplamda 25 omurga segmentine posterior dinamik stabilizasyon uygulanmıştır. Hastalar, preoperatif ve postoperatif dönemde Oswestry Disability Index (ODI) and Vizüel Analog Skala (VAS) ile klinik olarak değerlendirilmiştir. Segmental hareketi değerlendirmek için geç postoperatif dönemde radyolojik olarak fleksiyon ve ekstansiyon grafileri kullanılmıştır. BULGULAR: Postoperatif dönemde ODI ve VAS ölçümlerinde anlamlı düzelmeler kaydedilmiştir (P<0,01). Ameliyatlardan sonraki uzun dönem takiplerinde (ortalama 5 yıl 2 ay), lomber lordoz açısı, intervertebral aralık oranı ve segmental oran ölçülmüş ve istatiksel olarak değerlendirilmiştir. İki hastada postoperatif dönemde komşu segment hastalığı tespit edilmiş ve bu hastalarda L5-S1 diskektomi uygulanmıştır. SONUÇ: Lomber dejeneratif disk hastalığının cerrahi tedavisinde posterior dinamik stabilizasyon sistemi başarılı sonuçlar vermektedir.Publication Metadata only Senior moments are never-ending times when you are old (are they?): first step of turquoise project(Türk Nöropsikiyatri Derneği, 2022) Oz, Didem; Yildirim, Zerrin; Kiyi, Ilayda; Ozbek, Yagmur; Gurvit, Ibrahim Hakan; Yener, Gorsev; N/A; Kulaç, İbrahim; Tihan, Tarık; Erkol, Gökhan; Faculty Member; Other; Doctor; School of Medicine; School of Medicine; N/A; N/A; N/A; Koç University Hospital; 170305; 307927; N/AIntroduction: The number of dementia patients is increasing in Turkey,, as well as all over the world. However, we do not know how much the society knows about dementia. The aim of this study is to evaluate people's concept of dementia, their awareness of dementia research and treatment, whether dementia and forgetfulness are considered normal in old age, and whether having dementia is associated with a lack of mental abilities. Methods: A Dementia Awareness Questionnaire was created in the form of a self-report questionnaire, consisting of 20 questions and using a five-point Likert-type answering method in order to question participants' information about dementia. In addition, we asked for demographic information such as age, gender, occupation, education level of the participants, as well as whether they have had relatives diagnosed with a neurodegenerative disease. The surveys were administered online. Results: A total of 1551 participants from 53 cities were included in the study. Approximately half of the participants did not know the definition of dementia, 20.9% thought that dementia and Alzheimer's disease were the same; 50.4% considered forgetfulness, and 55.2% considered dementia as a natural consequence of aging. While 34.5% of the participants thought that dementia patients could be dangerous, 10.3% thought they could not continue living as a part of society. While 38.5% of healthcare professionals do not know the definition of dementia, 18.5% of them say that dementia and Alzheimer's disease are the same, 58.5% think that dementia patients are not fit to make their own decisions, 40.6% believe that dementia patients have criminal liability. 15.8% of healthcare professionals thought that dementia is only seen in elderly people; 21.4% thought that dementia, and 49.2% thought that forgetfulness was a result of normal aging. Conclusion: Our study confirms that dementia is still an unknown concept in society and among healthcare professionals. It is widely believed that forgetfulness and dementia are part of normal aging, and there is no cure for dementia. This study, which we have done in order to understand the level of dementia awareness in Turkish society, reveals the necessity for research on dementia and studies on how to increase dementia awareness.Publication Metadata only Assessment of the MRI and behavioral test results in a focal cerebral ischemia-reperfusion model in the rat after separate and combined use of mouse-derived neural progenitor cells, human-derived neural progenitor cells and atorvastatin(Turkish Neurosurgical Soc, 2018) Tanta, Alican; Izgi, Nail; Erdag, Ece; Aras, Yavuz; Genc, Cetin; N/A; Önder, Tuğba Bağcı; Faculty Member; School of Medicine; 184359AIM: To assess the efficacy of Neural progenitor cell (NPC) transplantation in ischemic stroke, and to investigate whether atorvastatin enhances therapeutic potency of NPC after stroke. MATERIAL and METHODS: The focal cerebral ischemia-reperfusion model was performed by transient occlusion of middle cerebral artery. Rats were assigned randomly to receive intracerebral transplantation of mouse NPC alone (mNPC), human NPC alone (hNPC), mouse NPC plus oral atorvastatin (mNPC+A), human NPC plus oral atorvastatin (hNPC+A), oral atorvastatin alone, or intracerebral Dulbecco's Modified Eagle's medium injection (control group). Adhesive removal, rotarod, cylinder tests, and magnetic resonance imaging (MRI) were used for assessment of rats during 4 weeks. After sacrification on 28th day, rats were investigated by immunofluorescent staining. RESULTS: The hNPC and mNPC groups showed significantly improved functional outcome and reduced infarct area ratio compared with the control group. The hNPC group had significantly better performance and lower infarct area ratio than the mNPC group. Addition of atorvastatin to stem cell therapy significantly improved functional outcome, although it did not affect the infarct area ratio on MRI. Anti-inflammatory response in the infarct area was higher in the mNPC group. NPC transplantation significantly reduced the amount of microglia and a significant increase in the amount of astrocytes. CD8a+ T lymphocyte and granzyme B activities were not detected in any of the subjects. CONCLUSION: Both hNPC and mNPC treatments significantly improved functional outcome, and reduced infarct area ratio after stroke. Atorvastatin enhanced the therapeutic potency of NPCs, including neurological improvement.Publication Metadata only Posttraumatic syringomyelia: a technical note(Turkish Neurosurgical Society, 2014) Marandi, Hosein Jafari; Sasani, Mehdi; Oktenoglu, Tunc; Suzer, Tuncer; Özer, Ali Fahir; Faculty Member; School of Medicine; 1022AIM: Previous studies have not identified a preferred surgical technique to treat posttraumatic syringomyelia. Both syringopleural shunting and arachnoidolysis are used in neurosurgery practice for the surgical treatment of posttraumatic syringomyelia. In this study, we present a new technique designed to achieve a better outcome following surgery. MATERIAL and METHODS: A 33-year-old man, who exhibited pain and spasticity below the thoracic region after a traffic accident that occurred 16 years ago, was treated with a new technique. He also had paraparesis and urinary incontinency before the surgery. The initial cervicothoracic Magnetic Resonance Imaging (MRI) scans showed the development of a syrinx in the T4-5 region. A syringopleural shunt and bilateral subarachnoid to subarachnoid catheters from proximal to distal zones of the syrinx were performed under surgical microscope. RESULTS: The operative time was 90 minutes, and the blood loss was approximately 100 mL. The patient was mobilized on postoperative day 2 and was discharged 4 days after surgery with mild improvement of his preoperative symptoms. Postoperative MRI scans revealed partial regression at 6 months and complete decompression of the syrinx at 3 years follow-up without any clinical symptoms. CONCLUSION:This is a report of minimal-access insertion combining syringopleural with subarachnoid-subarachnoid bypass shunt insertion. This minimally invasive technique seems to be an effective and safe method. / AMAÇ: Travma sonrasında ortaya çıkan siringomiyeli tedavisinde tercih edilmesi gereken bir cerrahi teknik tarif edilmemiştir. Siringoplevral şant ve araknoidolizis halen nöroşirürji pratiğinde kullanılmaktadır. Bu çalışmada, cerrahi sonrası daha iyi sonuç elde etmek için kullandığımız yeni bir tekniği tarif etmekteyiz. YÖNTEM ve GEREÇLER: On altı sene önce trafik kazası geçiren, torakal bölge altında ağrı, spastisite, paraparezi ve inkontinans şikayetleri olan, 33 yaşında erkek hasta bu yeni teknik ile ameliyat edildi. Manyetik Rezonans Görüntüleme (MRG) incelemesinde T4-5 seviyesinde sirinks saptandı. Hastaya mikroşirürjikal teknikler kullanılarak siringoplevral şant ve bilateral proksimal ve distal subaraknoid mesafeler arasına kateter yerleştirilmesi ameliyatı yapıldı. BULGULAR: Cerrahi girişim 90 dakika sürdü ve yaklaşık100 ml kan kaybı saptandı. Hasta ameliyattan sonra 2. gün mobilize edildi ve 4. gün şikayetlerinde kısmi düzelme ile taburcu edildi. Ameliyat sonrası 6. ayda yapılan MRG ile sirinkste kısmi düzelme, 3 yıl sonra kontrolde ise hem sirinks hem de klinik tabloda tam düzelme saptandı. SONUÇ: Bu yazıda, minimal yaklaşım ile siringoplevral ve subarkanoid-subaraknoid şant cerrahisinin kombine kullanımı rapor edilmiştir. Minimal invazif bu yöntem etkin ve güvenlidir.Publication Metadata only Biomechanical effect of graded facetectomy on asymmetrical finite element model of the lumbar spine(Turkish Neurosurgical Soc, 2014) N/A; Erbulut, Deniz Ufuk; Researcher; School of Medicine; 37661AIM: Facetectomy is a leading surgical method for stenosis treatment. The objective of this study was to investigate biomechanical effect of graded facetectomy on the lumbar spine using an asymmetrical finite element model. MATERIAL and METHODS: A validated 3-dimensional asymmetrical finite element model of lumbar L1-L5 was developed based on computerized tomography (CT) scans. All components were assigned material properties mimicking original spinal components. Graded facetectomy was performed by removing facet elements along with surrounding capsular ligaments. RESULTS: All three planes of motion were simulated and resulting range of motion at the index level, L4-L5, was compared with the intact model. Left unilateral facetectomy caused increase in range of motion by 14.6%, 87.4%, 94.5%, 10.5%, 6.3% and 8.8% for flexion, extension, left and right axial rotation, and left and right lateral bending, respectively. Total bilateral facetectomy resulted in an increase in motion by 33.6%, 238.7%, 120.4, 151.3%, 15.6% and 12.4% for flexion, extension, left and right axial rotation, and left and right lateral bending, respectively. CONCLUSION: Extension and axial rotation were found to be affected by the facet removal whereas flexion and lateral bending were mildly affected.Publication Metadata only Clinical and molecular genetic findings of cerebral arteriopathy with subcortical infarcts and leukoencephalopathy(Turkish Neurosurgical Society, 2021) Rüstemoğlu, Burcu Sevinç; Samancı, Bedia; Tepgeç, Fatih; Kürtüncü, Murat; Gündüz, Tuncay; Sayın, Gözde Yeşil; Gürvit, Hakan; Bilgi, Başar; Eraksoy, Mefkure; Hanağası, Haşmet; Uyguner, Zehra Oya; N/A; Altunoğlu, Umut; Avcı, Şahin; Faculty Member; Faculty Member; School of Medicine; School of Medicine; 126174; N/AObjective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused by small vessel diseases are generally associated with single-gene disorders with familial dominant and recessive inheritance. The most common condition is cerebral autosomal dominant arteriopathy, with subcortical infarcts and leukoencephalopathy (CADASIL), associated with the NOTCH3 gene. An infrequent form of this disease is the cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), revealed with pathogenic HTRA1 gene variants related to distinct molecular pathways. The neurological and cranial magnetic resonance imaging (MRI) findings are very similar to CADASIL; however, earlier than expected onset of common alopecia in man, low back pain, and more severe memory impairment are the differences in terms of clinical presentations. Clinical findings of 22 patients from 16 families with widespread white matter lesions in the periventricular field in the brain were investigated with molecular genetic findings. Materials and Methods: Clinical examination results and cranial MRI findings are reported, and NOTCH3 and HTRA1 genes are sequenced stepwise by Sanger and next-generation sequencing techniques. Results: Missense changes in epidermal growth factor (EGF)-like domain in the NOTCH3 are found in 18 cases from 14 families. Two different homozygous pathogenic missense and non-sense variants, in the HTRA1 gene, were detected in four patients from two families. The disease onset age was approximately 16 years earlier in cases carrying pathogenic variants located in the encoding region of EGF-like domains 1-6 of NOTCH3. Conclusion: In the NOTCH3 gene with c.382T>C (p.C128R), c.555T>G (p.C185W), and c.1903C>T (p.R635C) and in the HTRA1 gene c.235C>T (p.Q79*) are presented for the first time in this study. Molecular genetic investigation of CADASIL and CARASIL is important to support the clinical diagnosis, determine the inheritance model, provide patient and family counseling, manage disease process, and evaluate possible treatment strategies./ Öz:Amaç: Laküner inmelerin çoğu sporadik olup, hipertansiyon, diyabet, sigara ve kardiyovasküler hastalıklar önemli risk faktörleri arasındadır. Küçük damar hastalıklarının yol açtığı inmeler ise genel olarak ailevi özellik taşıyan dominant ve resesif kalıtım modelleriyle gözlenen tek gen hastalıklarıyla ilişkilidir. En yaygın bilineni NOTCH3 genindeki patojenik varyantlarla ortaya çıkan subkortikal enfarkt ve lökoensefalopati ile giden otozomal dominant serebral arteriyopati (CADASIL) hastalığıdır. Bu hastalığın çok daha nadir bir kliniği ise patojenik HTRA1 gen değişimleri ile gözlenen resesif (CARASIL) formudur. Nörolojik ve kraniyal manyetik rezonans görüntüleme (MRG) bulguları CADASIL’e çok benzer olan CARASIL, moleküler patolojik yolakların farklı olması, hafıza disfonksiyonunun daha ağır seyretmesi, özellikle erkeklerde beklenenden daha erken yaşta başlayan yaygın alopesi görülmesi, bağ dokusunun etkilenmesi ve hastaların önemli bir oranında bel ağrısı yakınmaları gibi özellikleri temelinde CADASIL’den farklı bir klinik seyir izler. Bu çalışmada beyinde periventriküler alanda yaygın ak madde lezyonlarının gözlendiği 16 aileden 22 olgunun klinik bulguları moleküler genetik bulguları eşliğinde araştırıldı. Gereç ve Yöntem: Olguların klinik muayene sonuçları ile kraniyal MRG bulguları raporlandı, NOTCH3 ve HTRA1 genleri kademeli olarak Sanger ve yeni nesil dizi yöntemleriyle incelendi. Bulgular: On dört aileden 18 olguda NOTCH3 geninde epidermal büyüme faktörü (EGF)-like domain bölgesinde sistein dozunu değiştiren heterozigot yanlış anlamlı değişimler ve iki aileden dört hastada HTRA1 geninde, biri anlamsız diğeri yanlış anlamlı tipte iki farklı homozigot patojenik varyant saptandı. NOTCH3’ün 1-6 EGF-like domain yapısını kodlayan bölgede patojenik varyant taşıyan olgularda hastalık bulgularının yaklaşık 16 yıl daha erken başladığı gözlendi. Sonuç: NOTCH3 geninde tespit edilen c.382T>C (p.C128R), c.555T>G (p.C185W), c.1903C>T (p.R635C) ile HTRA1 geninde saptanan c.235C>T (p.Q79*) ilk kez bu çalışmada gösterildi. CADASIL ve CARASIL olgularında moleküler genetik tanı, klinik tanıyı desteklemek, kalıtım modelini belirlemek, hasta ve ailelerine danışmanlık hizmeti sunmak, hastalık sürecini yönetmek ve olası tedavi stratejilerini değerlendirmek için önemlidir.