Person: BAKAR, HACI MUSTAFA
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BAKAR
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HACI MUSTAFA
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Publication Causes of ischemic stroke in patients with atrial fibrillation(Türk Nöroloji Derneği, 2020-12-01) Dinc, Yasemin; Bakar, Mustafa; Hakyemez, Bahattin; Dinç, Yasemin; DİNÇ, YASEMİN; Bakar, Mustafa; BAKAR, HACI MUSTAFA; Hakyemez, Bahattin; HAKYEMEZ, BAHATTİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı.; AAI-2318-2021; IUQ-6999-2023Objective: Atrial fibrillation (AF) is the most common cardiac arrhythmia affecting 1% of the adult population. However, ischemic strokes in patients with AF can be triggered by alternative mechanisms, especially in high-risk patients with additional vascular risk factors. In some patients, atherothrombotic mechanisms may cause stroke, and AF may be incidental or a symptom of atherosclerotic disease. In this case, it may be difficult to distinguish cardioembolic stroke from stroke due to large artery atherosclerosis. The aim of this study was to determine the causes of non-cardioembolic ischemic stroke in patients with non-valvular AF and to determine the risk factors for craniocervical atherosclerotic stenosis.Materials and Methods: This study identified risk factors for craniocervical atherosclerotic stenosis in patients followed up at the Uludag University Faculty of Medicine Department of Neurology with a diagnosis of ischemic stroke and non-valvular AF. In this study, 180 patients who were followed up with a diagnosis of non-valvular AF and acute ischemic stroke between January 1st, 2019 - March 1st 2020, in Uludag University Faculty of Medicine Department of Neurology, were retrospectively included.Results: In this study, the non-cardiac stroke rate was 20% in patients with non-valvular AF who had acute ischemic stroke. Ischemic stroke due to large vessel atherosclerosis was found in 14.4% of these patients, and 9.5% of all patients with AF were stented. When dermographic features, clinical features, and risk factors were analyzed for craniocervical atherosclerotic stenosis, a significant statistical result was obtained with male sex (p=0.020) and smoking (p<0.001).Conclusion: Stroke is a heterogeneous group of diseases caused by many complex mechanisms. Prevention of stroke recurrence is possible by starting effective treatment early. The presence of critical artery stenosis in a patient with acute ischemic stroke with AF causes stroke recurrence and this relapse cannot be prevented by anticoagulant treatment. Angiographic evidence also revealed ethnic and racial differences in patients with acute ischemic stroke. Therefore, more precise information can be obtained through prospective studies in our population.Publication The relationship between early neurological deterioration, poor clinical outcome, and venous collateral score in cerebral venous sinus thrombosis(Wolters Kluwer Medknow Publications, 2021-07-01) Dinç, Yasemin; Özpar, Rıfat; Hakyemez, Bahattin; Bakar, Mustafa; DİNÇ, YASEMİN; ÖZPAR, RİFAT; HAKYEMEZ, BAHATTİN; BAKAR, HACI MUSTAFA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı; Bursa Uludağ Üniversitesi/Tıp Fakültesi/ Nöroloji Anabilim Dalı; 0000-0001-6649-9287; 0000-0002-3425-0740; 0000-0003-0342-5939; IWC-9957-2023; AAH-5062-2021; AAI-2318-2021; EKN-8251-2022Background and Purpose: Cerebral venous sinus thrombosis (CVST) is one of the rare causes of cerebrovascular disease and has an extremely heterogeneous prognosis. The aim of this study was to investigate the potential relationship between early neurological deterioration, poor clinical outcome in CVST and the venous collateral score. Materials and Methods: A total of 121 patients diagnosed with CVST between 2010 and 2020 were retrospectively included. The demographic, clinical, and radiological findings related to venous sinus thrombosis and early neurological deterioration were investigated in relation to the clinical outcome. Results: The factors associated with early neurological deterioration were superior sagittal sinus thrombosis (P < 0.001), sinus rectus thrombosis (P = 0.031), parenchymal lesions (P < 0.001), and venous collateral score (P < 0.001). The factors associated with poor clinical outcome were superior sagittal sinus thrombosis (P < 0.001), cortical vein thrombosis (P < 0.001), venous collateral score (P < 0.001), and initial clinical symptoms. Binary logistic regression analyses revealed poor clinical outcome as a significant variable, with a venous collateral scale of 0 or 1 as a risk factor for a poor outcome (significance of the model P < 0.001). Conclusion: Early neurologic deterioration and poor clinical outcome may occur due to poor collateralization in CVST. Identifying the subgroup of CVST patients at risk of clinical deterioration is therefore important. This study highlights the clinical importance of venous collaterals; however, larger prospective multicenter studies are required to confirm the relationship with venous collaterals in patients with CVST.Publication Cerebral venous sinus thrombosis in women: Subgroup analysis of the VENOST study(Hindawi, 2020-05-15) Uludüz, Derya; Sahin, Sevki; Duman, Taşkın; Öztürk, Şerefnur; Yayla, Vildan; Afşar, Nazire; Uzuner, Nevzat; Midi, Ipek; Çınar, Nilgün; Sungur, Mehmet Ali; Domaç, Füsun Mayda; İnce, Birsen; Göksan, Baki; Mısırlı, Cemile Handan; Bakar, Mustafa; Kozak, Hasan Hüseyin; Çolakoğlu, Sena; Karahan, Ali Yavuz; Göksu, Eylem Özaydın; Özdağ, Fatih; Şenol, Mehmet Güney; Yürekli, Vedat Ali; Aluçlu, Ufuk; Demir, Serkan; Küçükoğlu, Hayriye; Oruç, Serdar; Yeşilot, Nilüfer; Küsbeci, Özge Yımaz; Nazliel, Bijen; Tokuç, Firdevs Ezgi Uçan; Bektaş, Hesna; Taşcılar, Fatma Nida; Aytaç, Emrah; Gökçe, Mustafa; Çağlayan, Hale Zeynep Batur; Tüfekci, Ahmet; Uzuner, Gülnur; Örken, Dilek Necioğlu; Yalın, Osman Özgür; Utku, Uygar; Yılmaz, Arda; Genç, Hamit; Çabalar, Murat; Milanlıoğlu, Ayşel; Ekmekci, Hakan; Zeydan, Burcu; Baybas, Sevim; Kablan, Yüksel; Göksel, Başak Karakurum; Açıkgöz, Mustafa; Kurucu, Hatice; Demirci, Seden; Güneş, Taşkın; BAKAR, HACI MUSTAFA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; EKN-8251-2022Background. Early diagnosis of cerebral venous sinus thrombosis (CVST) associated with reproductive health-related risk factors (RHRF) including pregnancy, puerperium, and oral contraceptive (OC) use can prevent severe neurological sequelae; thus, the symptoms must be documented in detail for each group.Methods. Out of 1144 patients with CVST, a total of 777 women were enrolled from a multicenter for the study of cerebral venous sinus thrombosis (VENOST). Demographic, biochemical, clinical, and radiological aspects were compared for 324 cases with RHRF and 453 cases without RHRF.Results. The mean age of the RHRF (-) group (43.2 +/- 13 years) was significantly higher than of the RHRF (+) group (34 +/- 9years). A previous history of deep venous thrombosis (3%), isolated cavernous sinus involvement (1%), cranial neuropathy (13%), comorbid malignancy (7%), and its disability scores after 12 months (9%) were significantly higher in the RHRF (-) group. The RHRF (+) group consisted of 44% cases of puerperium, 33% cases of OC users and 23% of pregnant women. The mean age was found to be higher in OC users (38 +/- 9years). A previous history of deep venous thrombosis was slightly higher in the pregnancy subgroup (4%). Epileptic seizures were more common in the puerperium group (44%).Conclusion. The results of our study indicate that the risk of CSVT increases parallel to age, OC use, and puerperium period. In addition, when considering the frequency of findings and symptoms, epileptic seizures in the puerperium subgroup of the RHRF (+) group and malignancies in the RHRF (-) group may accompany the CSVT. In daily practice, predicting these risks for the CSVT and early recognition of the symptoms will provide significant benefits to patients.Publication Evaluation of clinical, radiological, and demographic characteristics of juxtacortical hemorrhages in cerebral venous thrombosis(Türk Nöroloji Derneği, 2021-12-01) Dinç, Yasemin; Özpar, Rıfat; Bakar, Mustafa; Hakyemez, Bahattin; DİNÇ, YASEMİN; ÖZPAR, RİFAT; BAKAR, HACI MUSTAFA; HAKYEMEZ, BAHATTİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı; 0000-0001-6649-9287; 0000-0002-3425-0740; IUQ-6999-2023; AAH-5062-2021; EKN-8251-2022; AAI-2318-2021Objective: Cerebral venous thrombosis (CVT) is a rare form of cerebrovascular disease. Intracranial hemorrhage may occur in 40% of the patients with CVT. The morphology of the intracranial hemorrhages ranges from small juxtacortical hemorrhages (JH) to large parenchymal hematomas. Although it has been suggested that JH is a characteristic of CVT, studies examining the relationship between JH and CVT are limited. In this study, it was aimed to determine the clinical, radiological, and demographic characteristics of JH in patients with CVT.Materials and Methods: In this study, a total of 157 patients who were followed up with the diagnosis of CVT between 2015 and 2021 were included retrospectively. Patients were categorized as, those with and without JH. Variables associated with JH were determined by comparing the demographic, clinical, and radiological characteristics, CVT etiologies and clinical outcomes of the patients.Results: When the clinical, demographic, and radiological characteristics of the patients with and without JH were compared; female gender (p=0.037), clinical initial symptom (0.003), early superior sagittal sinus (SSS) thrombosis (p<0.001), venous collateral scale (VCS) (p<0.001), being in the postpartum period (p=0.006), development of intracranial herniation (p<0.001), and poor clinical outcome (p<0.001) were significantly related with JH. When the significant variables were evaluated with the binary logistic regression, the most significant and independent variables were found to be SSS thrombosis (p=0.043), cortical vein thrombosis (CoVT) (p=0.010), and seizures after CVT (p=0.004). By contrast, no relationships were found between the groups in terms of VCS in binary logistic regression.Conclusion: Diagnosis of CVT is possible with high clinical suspicion and correct interpretation of radiological imaging. JH could be detected with non-contrast cranial computed tomography, which is the first imaging modality, and may cause the clinician to suspect from SSS thrombosis and CoVT. More precise results could be obtained with the prospective multicenter studies.Publication Assessment of patients with intracerebral hemorrhage or hemorrhagic transformation in the VENOST study(Karger, 2021-01-01) Duman, Taşkın; Yayla, Vildan; Uludüz, Derya; Göksu, Eylem Özaydın; Yürekli, Vedat Ali; Genç, Hamit; Utku, Uygar; Çınar, Nilgün; Tekeli, Hakan; Sungur, Mehmet Ali; Tokuç, Firdevs Ezgi; Uzuner, Nevzat; Şenol, Mehmet Güney; Yılmaz, Arda; Gökçe, Mustafa; Demirci, Seden; Küsbeci, Özge Yılmaz; Uzuner, Gülnur Tekgöl; Şahin, Şevki; Çağlayan, Hale Zeynep Batur; Açıkgöz, Mustafa; Özdağ, Fatih; Baybaş, Sevim; Ekmekci, Hakan; Çabalar, Murat; Yaman, Mehmet; Bektaş, Hesna; Kaplan, Yüksel; Göksel, Başak Karakurum; Milanlıoğlu, Aysel; Orken, Dilek Necioğlu; Aluçlu, Mehmet Ufuk; Çolakoğ, Şenalu; Tüfekci, Ahmet; Bakar, Mustafa; Nazlıel, Bijrn; Taşçilar, Nida; Göksan, Baki; Kozak, Hasan Hüseyin; Mısırlı, Handan; Küçükoğlu, Hayriye; Midi, İpek; Mengüllüoğlu, Necdet; Aytaç, Emrah; Yeşilot, Nilüfer; İnce, Birsen; Yalın, Osman Özgür; Güneş, Taşkın; Oruç, Serdar; Domac, Füsun Mayda; Öztürk, Şerefnur; Karahan, Ali; Erdoğan, Hacı Ali; Afşar, Nazire; BAKAR, HACI MUSTAFA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; EKN-8251-2022Introduction: Cerebral venous and sinus thrombosis (CVST) may lead to cerebral edema and increased intracranial pressure; besides, ischemic or hemorrhagic lesions may develop. Intracerebral hemorrhages occur in approximately one-third of CVST patients. We assessed and compared the findings of the cerebral hemorrhage (CH) group and the CVST group. Materials and Methods: In the VENOST study, medical records of 1,193 patients with CVST, aged over 18 years, were obtained from 35 national stroke centers. Demographic characteristics, clinical symptoms, signs at the admission, radiological findings, etiologic factors, acute and maintenance treatment, and outcome results were reported. The number of involved sinuses or veins, localizations of thrombus, and lesions on CT and MRI scans were recorded. Results: CH was detected in the brain imaging of 241 (21.1%) patients, as hemorrhagic infarction in 198 patients and intracerebral hemorrhage in 43 patients. Gynecologic causes comprised the largest percentage (41.7%) of etiology and risk factors in the CVST group. In the CH group, headache associated with other neurological symptoms was more frequent. These neurological symptoms were epileptic seizures (46.9%), nausea and/or vomiting (36.5%), altered consciousness (36.5%), and focal neurological deficits (33.6%). mRS was >= 3 in 23.1% of the patients in the CH group. Discussion and Conclusion: CVST, an important cause of stroke in the young, should be monitored closely if the patients have additional symptoms of headache, multiple sinus involvement, and CH. Older age and parenchymal lesion, either hemorrhagic infarction or intracerebral hemorrhage, imply poor outcome.Publication Vertebral artery hypoplasia as an independent risk factor of posterior circulation atherosclerosis and ischemic stroke(Lippincott Williams & Wilkins, 2021-09-24) Dinç, Yasemin; Özpar, Rıfat; Emir, Büsra; Hakyemez, Bahattin; Bakar, Mustafa; DİNÇ, YASEMİN; ÖZPAR, RİFAT; HAKYEMEZ, BAHATTİN; BAKAR, HACI MUSTAFA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyolog Anabilim Dalı.; 0000-0001-6649-9287; 0000-0002-3425-0740; IWC-9957-2023; AAH-5062-2021; AAI-2318-2021; EKN-8251-2022Vertebral artery hypoplasia (VAH) is a frequent anatomical variation of vertebral arteries, with emerging evidence suggesting that it contributes to posterior circulation ischemia. However, the relationship between VAH and ischemic stroke remains unknown. Hence, this study aimed to determine the prevalence of VAH in patients diagnosed with acute ischemic stroke who were followed up in a neurology clinic and to determine if it can potentially be a risk factor for atherosclerotic stenosis in vertebrobasilar circulation. This retrospective study included 609 patients diagnosed with acute ischemic stroke between January 1, 2019 and January 1, 2020. Demographic of patients, risk factors, radiological and clinical characteristics were evaluated. Posterior circulation was very common in patients with VAH, and the most common locations of atherosclerotic stenosis were V1 and V4 segments of the vertebral artery and the middle segment of basilar artery. Analysis of the risk factors for atherosclerotic stenosis in patients with posterior circulation acute ischemic stroke suggested that VAH was an independent risk factor. Findings of the study suggest that VAH pre-disposes atherosclerotic stenosis in vertebrobasilar circulation, although its mechanism remains unknown. Hemodynamic parameters associated with atherosclerosis could not be measured in vivo. Thus, to better understand the underlying mechanism, conducting studies that examine blood flow parameters with high-resolution magnetic resonance angiography in patients diagnosed with acute cerebral ischemia patients with VAH is warranted.Publication Hypersomnia in gulllain-barre syndrome: A co-incidental or an aetiological association?(Galenos Publ House, 2021-06-01) Demir, Aylin Bican; Dinc, Yasemin; DİNÇ, YASEMİN; BİCAN DEMİR, AYLİN; Bakar, Mustafa; BAKAR, HACI MUSTAFA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; 0000-0001-6739-8605Increased daytime sleepiness, hypersomnia, is a very common symptom in the general population and may cause serious problems in their lives. Hypersomnia may be idiopathic or may occur secondary to other aetiologies. Infections and vaccinations may also be related to hypersomnias. A 74-year-old man complaining of muscle weakness after severe diarrhoea was admitted and diagnosed with Guillain-Barre syndrome (GBS). He also complained of increased daytime sleepiness since the emergence of his weakness, for which all metabolic and endocrine aetiologies were excluded. A full night polysomnography and multiple sleep latency test revealed objective daytime sleepiness and tree episodes of rapid eye movements during sleep periods. Because of the temporal association, the patient was diagnosed with secondary narcolepsy secondary to post-infectious GBS.Publication Identifying the risk factors of early neurological deterioration after thrombolysis in patients with acute ischemic stroke(Galenos Yayıncılık, 2022-09-01) Dinç, Yasemin; Özpar, Rıfat; Hakyemez, Bahattin; Bakar, Hacı Mustafa; DİNÇ, YASEMİN; ÖZPAR, RİFAT; HAKYEMEZ, BAHATTİN; BAKAR, HACI MUSTAFA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı.; 0000-0001-6649-9287; 0000-0003-0342-5939; 0000-0002-3425-0740; 0000-0001-5229-0001; IUQ-6999-2023; AAH-5062-2021; AAI-2318-2021; EKN-8251-2022Objective: The efficacy of intravenous (IV) recombinant tissue plasminogen activator (rt-PA) therapy in the treatment of acute ischemic stroke (AIS) has been demonstrated in many studies and IV rt-PA therapy has been increasingly used all over the world. Early neurological deterioration (END) in AIS is common and potentially associated with a poor clinical outcome. The prevalence of END in AIS ranges from 13% to 37% in studies. The aim of this study is to determine the prevalence and risk factors of END in patients with AIS receiving IV rt-PA therapy. Materials and Methods: One hundred fifty seven patients who were given IV rt-PA treatment by Bursa Uludag University Faculty of Medicine, Department of Neurology between 01.01.2020 and 01.01.2021 were retrospectively included in this study. It was planned to determine the risk group by comparing patients with END with those without. Results: Age (p=0.023), serum glucose level (p=0.045), The National Institutes of Health Stroke score at discharge (p<0.01), Alberta Stroke Program Early CT (ASPECT) score (p<0.01) when clinical, radiological and demographic data associated with END were evaluated and, statistically significant correlation was found with the presence of major vessel occlusion (p=0.012), ischemic stroke due to cardioembolism (p=0.002), clinical outcome (p<0.001) and symptomatic intracerebral hemorrhage (p<0.001). When the significant variables associated with END were evaluated with binary logistic regression, the most significant variables were found to be age (p=0.006) and ASPECT score (p<0.001). Conclusion: The causes of END are multifactorial. The most associated risk factors were found to be advanced age and low ASPECT score. It was understood that the most common cause of END was the inability to perform mechanical thrombectomy for major vessel occlusion. Contrary to popular belief, the most common cause of END in patients with AIS who received IV rt-PA treatment was not considered to be symptomatic intracranial hemorrhage but to inadequate recanalization or late recanalization.Publication Headache as the sole presenting symptom of cerebral venous sinuses thrombosis: Subgroup analysis of data from the VENOST study(Kare Publ, 2021-01-01) Duman, Taşkın; Cinar, Nilgün; Uludüz, Derya; Domaç, Füsun Mayda; Öztürk, Şerefnur; Yayla, Vildan; Karahan, Ali Yavuz; Afşar, Nazire; Sungur, Mehmet Ali; Göksu, Eylem Özaydın; Yürekli, Vedat Ali; Genç, Hamit; Utku, Uygar; Şahin, Şevki; Tekeli, Hakan; Tokuç, Firdevs Ezgi; Uzuner, Nevzat; Şenol, Mehmet Güney; Yılmaz, Arda; Gökçe, Mustafa; Demirci, Seden; Küsbeci, Özge Yılmaz; Uzuner, Gülnur Tekgöl; Çağlayan, Hale Zeynep Batur; Açıkgöz, Mustafa; Kurucu, Hatice; Özdağ, Mehmet Fatih; Baybas, Sevim; Ekmekci, Hakan; Çabalar, Murat; Yaman, Mehmet; Bektaş, Hesna; Kaplan, Yüksel; Göksel, Başak Karakurum; Milanlıoğlu, Aysel; Orken, Dilek Necioğlu; Aluclu, Mehmet Ufuk; Çolakoğlu, Sena; Tüfekci, Ahmet; Bakar, Mustafa; Nazliel, Bijen; Taşcılar, Nida; Göksan, Baki; Kozak, Hasan Hüseyin; Mısırlı, Cemile Handan; Küçükoğlu, Hayriye; Midi, İpek; Mengülluoğlu, Necdet; Aytaç, Emrah; Yeşilot, Nilüfer; İnce, Birsen; Yalın, Osman Özgür; Güneş, Taşkın; Oruç, Serdar; Demir, Serkan; BAKAR, HACI MUSTAFA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; EKN-8251-2022Objectives: Headache is the most common complaint in cerebral venous sinus thrombosis (CVST) and it may sometimes be the only symptom in these patients. This retrospective and prospective study was an investigation of any differences in terms of clinical risk factors, radiological findings, or prognosis in patients with CVST who presented with isolated headache (IH) and cases with other concomitant findings (non-isolated headache [NIH]).Methods: A total of 1144 patients from a multicenter study of cerebral venous sinus thrombosis ( VENOST study) were enrolled in this research. The demographic, biochemical, clinical, and radiological aspects of 287 IH cases and 857 NIH cases were compared.Results: There were twice as many women as men in the study group. In the IH group, when gender distribution was evaluated by age group, no statistically significant difference was found. The onset of headache was frequently subacute and chronic in the IH group, but an acute onset was more common in the NIH group. Other neurological findings were observed in 29% of the IH group during follow-up. A previous history of deep, cerebral, or other venous thromboembolism was less common in the IH group than in the NIH group. Transverse sinus involvement was greater in the IH group, whereas sagittal sinus involvement was greater in the NIH group. The presence of a plasminogen activator inhibitor (PAI) mutation was significantly greater in the IH group.Conclusion: IH and CVST should be kept in mind if a patient has subacute or chronic headache. PAI, which has an important role in thrombolytic events, may be a risk factor in CVST. Detailed hematological investigations should be considered. Additional studies are needed.Publication Evaluation of the clinical features accompanied by the gene mutations the 2 novel PSEN1 variants in a Turkish early-onset alzheimer disease cohort(Lippincott Williams & Wilkins, 2021-07-01) Eryılmaz, Işıl E.; Bakar, Mustafa; Egeli, Ünal; Çeçener, Gülşah; Yurdacan, Beste; Çolak, Dilara K.; Tunca, Berrin; ERYILMAZ, IŞIL EZGİ; BAKAR, HACI MUSTAFA; EGELİ, ÜNAL; ÇEÇENER, GÜLŞAH; Yurdacan, Beste; Çolak, Dilara K.; TUNCA, BERRİN; Bursa Uludağ Üniversite/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; 0000-0001-7904-883X; 0000-0002-3820-424X; 0000-0002-1619-6680; 0000-0002-3820-424X; 0000-0002-1619-6680; GWV-3548-2022; AEA-0144-2022; AAH-1420-2021; EKN-8251-2022; AAP-9988-2020; HXB-1173-2023; ABI-6078-2020Introduction: Early-onset Alzheimer disease (EOAD) is an earlier Alzheimer disease form which is characterized by the mutations in the amyloid precursor protein, presenilin-1/2 (PSEN1/2), and triggering receptor expressed on myeloid cells 2 (TREM2). However, it is still necessary to report mutational screening in multiethnic groups to improve the genetic background of EOAD due to the variant classification challenge. Methods: We performed targeted sequencing for the amyloid precursor protein, PSEN1, PSEN2, and TREM2 genes in 74 patients and 1 family diagnosed with EOAD. Results: Among the detected variants, 8 were coding and 6 were noncoding in 15 of 74 patients. In PSEN1, 2 pathogenic coding variants (T274K and L364P) detected in 2 patients were novel and 3 coding variants (G183V, E318G, and L219P) detected in 2 patients were previously reported. We found 4 patients with the compound heterozygosity for the PSEN2 A23= and N43= and a family with the coexistence of them, and 1 patient with TREM2 Y38C. The coding variation frequency was 12.1%. In silico analysis indicated pathogenic potentials and clinical interpretations of the detected variants. Conclusion: Our study reveals the rare gene variants including novel ones from the Turkish EOAD cohort and provides to clinicians the list of detected variants in the screened genes, which may also be useful for accurate genetic counseling.