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Öğe CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor(Blackwell Publishing Ltd, 2002) Utku, U; Celik, Y; Uyguner, O; Yüksel-Apak, M; Wollnik, BMutations in the Notch3 gene are the cause of the autosomal dominant disorder CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The CADASIL is an adult-onset neurologic disorder (average age of onset is 45 years) characterized by recurrent strokes and dementia. Clinical features combined with cerebral magnetic resonance imaging (MRI), showing a diffuse leukoencephalopathy with subcortical infarcts in the basal ganglia and white matter, are highly contributive to the diagnosis. We present a Turkish family with CADASIL, in which 12 individuals in four generations were affected showing the typical clinical features of recurrent strokes. Mutation analysis of the Notch3 receptor gene identified the recently described R90C mutation in the N-terminal part of the gene in affected individuals. Interestingly, migraine without aura was found as an initial symptom of the disease in two young mutation carriers (22 and 25 years, respectively), who did not show any additional clinical features or any MRI abnormalities. This indicates that migraine without aura in the absence of MRI abnormalities may represent an early initial symptom of CADASIL, which is difficult to diagnose in the absence of molecular diagnosis. Therefore, the used molecular screening method for Notch3 mutations provides a rapid and accurate diagnostic tool in addition to the standard diagnostic procedures.Öğe Clinical and neuroradiological predictors of mortality in patients with primary pontine hemorrhage(Elsevier Science Bv, 2005) Balci, K; Asil, T; Kerimoglu, M; Celik, Y; Utku, UBackground and purpose: Primary pontine hemorrhage (PPH) accounts aproximately for about 5-10% of intracranial hemorrhages, and PPHs are known to have a much less uniform prognosis. We aimed to evaluate the clinical and radiological predictors affecting the mortality in 32 patients with PPH. Material and methods: We retrospectively evaluated the data of 32 patients with PPH admitted to our clinic between 1994 and 2004. We divided the patients into two groups: (1) patients who survived (14 patients), and (2) patients who died (18 patients). The two groups were compared for age, gender, diabetes mellitus, hypertension, initial clinical status, initial GCS, pupillary abnormalities, ophthalmoparesis, volume and localisation of hemorrhage, intraventricular and extrapontine extension, necessity of mechanical ventilation and hydrocephalus. The hematoma volumes were measured with the formulation described by Broderick. Results: Eighteen patients (56%) died and 14 patients (44%) survived. The patients who died (61.3 +/- 8.8) were older than the survivors (56.4 +/- 11.0), but the difference was not statistically significant. The mean GCS was 4.4 +/- 0.2, the mean hematoma volume was 9.9 +/- 3.3 ml for patients who died and the mean GCS was 10.1 +/- 3.3, the mean hematoma volume was 3.3 +/- 1.2 ml for survivors (p < 0.001). Coma on admission (p = 0.001), extrapontine extension (p = 0.001), intraventricular extension (p = 0.019), necessity of mechanical ventilation (p = 0.007), hydrocephalus (p = 0.024), massive and bilateral tegmental localisation (p = 0.006) were found statistically significant predictors for mortality with univariate comparison, and coma on admission (p = 0.038) was the only significant predictor with multivariate regression analysis. Conclusion: In patients with PPH, it is important to know the prognostic factors for mortality for planning the treatment protocol, and coma and bad clinical status on admission was found the only significant prognostic predictor for mortality with multivariate regression analysis. (c) 2005 Elsevier B.V. All rights reserved.Öğe Electrocardiographic findings and prognosis in ischemic stroke(Wolters Kluwer Medknow Publications, 2003) Bozluolcay, M; Ince, B; Celik, Y; Harmanci, H; Ilerigelen, B; Pelin, ZIntroduction: Electrocardiographic (ECG) changes are observed in patients with acute stroke and are related with the prognosis. Aims: To determine the frequency and significance of ECG changes in patients with acute ischemic stroke. Material and Methods: In a prospective hospital-based study 87 patients with cerebral infarction were observed for ECG changes during their stay in the hospital. All the patients had ischemic stroke for the first time. The ECG changes observed were compared with those of the control group consisting of 87 patients. Results: Of the 87 patients of the study group, 47.1% were females and 52.9% males. The mean age was 65.5+/-11.9. (range 31-91 yrs). The control group consisted of 50.6% females and 49.4% males. The mean age was 64.5+/-9.1 (range 31-87 yrs). The frequency of the ECG changes observed in patients with cerebral infarct was 62.1% while it was 29.9% in the control group (P<0.0001). ECG changes observed were mostly related to myocardial ischemia. The six-month mortality rate in the patients with ECG changes was 38.9% whereas it was 15.2% in those with normal ECG (P<0.05). Conclusions: The observations of this study suggest that cardiac evaluation in patients with acute ischemic stroke is of prognostic importance.Öğe Fou rire prodromique associated with simultaneous bilateral capsular genu infarction(Elsevier Sci Ltd, 2005) Uzunca, I; Utku, U; Asil, T; Celik, YPathological laughter is exaggerated, uncontrollable, and inappropriate laughter usually unrelated to a true emotion or a congruent mood. Fou rire prodromique is a rare form of prodromal pathological laughter of uncertain pathophysiology that heralds an ischaemic neurologic deficit. We report a case of prodromal pathological laughter marking the onset of bilateral capsular genu infarction. T2-weighted cranial magnetic resonance imaging (MRI) showed bilateral capsular genu infarction. There was also a diffusion defect in the same areas on diffusion-weighted imaging (DWI). Although it is known that bilateral subcortical lesions can cause pathological laughter, this is the first demonstration of simultaneous associated bilateral capsular genu infarction on cranial DWI MRI. (c) 2004 Elsevier Ltd. All rights reserved.Öğe Isolated bilateral sixth nerve palsy secondary to metastatic carcinoma: a case report with a review of the literature(Elsevier Science Bv, 2003) Kocak, Z; Celik, Y; Uzal, MC; Uygun, K; Kaya, M; Albayram, SIsolated sixth nerve palsies usually occur in the vasculopathic age group and are often associated with diabetes mellitus, hypertension, and atherosclerosis but also occur in the presence of skull base tumors. However, isolated bilateral sixth nerve palsies are an extremely rare complication of skull base lesions due to metastatic neoplasms. A case of a 46-year-old man with metastatic small-cell carcinoma of the lung that developed acute bilateral abducens nerve palsies is presented. Although this appears to be an isolated case, metastasis to the skull base must be included in the differential diagnosis of isolated bilateral sixth nerve palsies. (C) 2003 Elsevier B.V. All rights reserved.Öğe Post-stroke mania in late life due to right temporoparietal infarction(Blackwell Publishing Asia, 2004) Celik, Y; Erdogan, E; Tuglu, C; Utku, U[Abstract Not Available]Öğe Proximal myotonic dystrophy associated with parkinsonism(Elsevier Sci Ltd, 2006) Celik, Y; Turgut, N; Balci, K; Kabayel, LAlthough mental changes and cognitive disorders are seen frequently in myotonic dystrophy (MD) there are only three cases of MD associated with parkinsonism reported in the literature. We report another case of this extremely rare combination. (c) 2006 Elsevier Ltd. All rights reserved.
