Novel frameshift CTSF mutation causing kufs disease type B mimicking frontotemporal dementia-parkinsonism.

Adult-onset neuronal ceroid lipofuscinoses (ANCLs, Kufs disease-KD) are rare, inherited, progressive, neurodegenerative, lysosomal storage diseases. Mutations in cathepsin F (CTSF) were linked to KD type B. Conversely, Frontotemporal dementia (FTD) is the second most common type of presenile dementia and Parkinsonism is a mostly common accompanying feature. Due to pronounced behavioral, cognitive, and motor features in the patients with KD type B, mutations in CTSF may resemble FTD-parkinsonism. Here, we present a case of KD type B with a novel homozygous frameshift pathogenic variant (p.Gly439Alafs*36) in the Cathepsin F (CTSF) gene presenting behavioral changes, cognitive disturbances and parkinsonism with a family history mimicking FTD-parkinsonism.

A New Hybrid Approach Based on Time Frequency Images and Deep Learning Methods for Diagnosis of Migraine Disease and Investigation of Stimulus Effect.

Migraine is a neurological disorder that is associated with severe headaches and seriously affects the lives of patients. Diagnosing Migraine Disease (MD) can be laborious and time-consuming for specialists. For this reason, systems that can assist specialists in the early diagnosis of MD are important. Although migraine is one of the most common neurological diseases, there are very few studies on the diagnosis of MD, especially electroencephalogram (EEG)-and deep learning (DL)-based studies. For this reason, in this study, a new system has been proposed for the early diagnosis of EEG- and DL-based MD. In the proposed study, EEG signals obtained from the resting state (R), visual stimulus (V), and auditory stimulus (A) from 18 migraine patients and 21 healthy control (HC) groups were used. By applying continuous wavelet transform (CWT) and short-time Fourier transform (STFT) methods to these EEG signals, scalogram-spectrogram images were obtained in the time-frequency (T-F) plane. Then, these images were applied as inputs in three different convolutional neural networks (CNN) architectures (AlexNet, ResNet50, SqueezeNet) that proposed deep convolutional neural network (DCNN) models and classification was performed. The results of the classification process were evaluated, taking into account accuracy (acc.), sensitivity (sens.), specificity (spec.), and performance criteria, and the performances of the preferred methods and models in this study were compared. In this way, the situation, method, and model that showed the most successful performance for the early diagnosis of MD were determined. Although the classification results are close to each other, the resting state, CWT method, and AlexNet classifier showed the most successful performance (Acc: 99.74%, Sens: 99.9%, Spec: 99.52%). We think that the results obtained in this study are promising for the early diagnosis of MD and can be of help to experts.

Predictors of Symptomatic Hemorrhage After Endovascular Treatment for Anterior Circulation Occlusions: Turkish Endovascular Stroke Registry.

We evaluated the predictive factors of symptomatic intracranial hemorrhage (SICH) in endovascular treatment of stroke. We included 975 ischemic stroke patients with anterior circulation occlusion. Patients that had hemorrhage and an increase of ≥4 points in their National Institutes of Health Stroke Scale (NIHSS) after the treatment were considered as SICH. The mean age of patients was 65.2±13.1 years and 469 (48.1%) were women. The median NIHSS was 16 (13-18) and Alberta Stroke Program Early CT 9 (8-10). In 420 patients (43.1%), modified Rankin Scale was favorable (0-2) and mortality was observed in 234 (24%) patients at the end of the third month. Patients with high diastolic blood pressure (P<.05) had significantly higher SICH. SICH was significantly higher in those with high NIHSS scores (P<.001), high blood glucose (P<.001), and leukocyte count at admission (P<.05). Diabetes mellitus (DM) (OR 1.90; P<.001), NIHSS (OR 1.07; P<.05), adjuvant intra-arterial thrombolytic therapy (IA-rtPA) (OR, 1.60; P<.05), and puncture-recanalization time (OR 1.01; P<.05) were independent factors of SICH. Higher baseline NIHSS score, longer procedure time, multiple thrombectomy maneuvers, administration of IA-rtPA, and the history of DM are independent predictors of SICH in anterior circulation occlusion.

Role of modified TAN score in predicting prognosis in patients with acute ischemic stroke undergoing endovascular therapy.

OBJECTIVE: The study aimed to evaluate the prognostic role of modified TAN collateral score in predicting functional independence in ischemic stroke patients, who underwent endovascular therapy. INTRODUCTION: Identifying the group of patients, who will benefit most from arterial recanalization in patients with acute ischemic stroke, is the basis of success. Collateral circulation is a physiological condition that protects the brain against ischemia and inhibits the growth of a damaged area. The presence of collaterals is a well-known determinant for functional independence. Numerous collateral scoring systems are used for this purpose. The aim of this study was to evaluate the prognostic role of modified TAN collateral score (MTCS) in predicting functional independence in patients, who received endovascular therapy. MATERIALS AND METHODS: Prospective data of 101 patients, who received endovascular therapy from the stroke team of Eskisehir Osmangazi University (ESOGÜ) between 2016 and 2017, were examined retrospectively for this purpose. Collateral assessments were performed in Computed Tomography Angiography (CTA) according to the modified TAN scoring system (< 50% refers to poor collateral status, ≥ 50% refers to good collateral status). Good clinical outcome was assessed as mRS 0-2 in the 3rd month. The TICI scoring system was used in the evaluation of recanalization. Patients treated within the first 6 h of symptom onset, patients with NCCT and contrast CTA, patients with internal carotid artery and middle cerebral artery occlusion were included in the study. Posterior system stroke was not included in the study. CONCLUSION: Of the 101 patients, 50 (49%) had poor MTCS. Presentation and 24th hour NIHSS values of the patients with poor MTCS were higher (p:0.003). The third month mRS values were low in patients with good MTCS on admission, while these values were high in patients, who presented with poor MTCS. Mortality rates were significantly higher in the patient group with poor collateral circulation score (32-5.9%) (p:0.001). No significant differences were found in the presentation ASPECT values and (TICI 2b/3) recanalization rates of the patients. The rate of futile recanalization was significantly higher in the group with poor collateral circulation (52-8%) (p:0.0001). Presentation glucose, NIHSS, mTAN, symptom-puncture time, and good ASPECT score were found to be predictive markers for good outcome by univariate analysis. The major risk factors were determined by performing multiple logistic regression analysis. Presentation glucose, NIHSS, and mTAN (OR:1.013, 1.29, 0.198, respectively) were found to be strong and independent predictors for good clinical outcome. According to Multiple Binary Logistic Regression analysis Backward-ward model, Baseline NIHSS, poor collaterals and baseline glucose are found as predictors for poor outcome. DISCUSSION: This study shows that good collateral score is associated with good clinical response, small final infarct volume, third month low mRS, low admission, and 24-hour NIHSS rates. The likelihood of having long term prognosis is 7 fold higher in patients with poor collaterals. The use of the MTCS system is recommended and supported due to its easy and rapid applicability.

Awareness of Migraine Among Primary Care Physicians in Turkey: A Regional Study.

INTRODUCTION: Migraine is a primary headache that involves genetic and environmental factors. In studies conducted in different countries, migraine was shown to be underdiagnosed, treated insufficiently, and highly related to disability. The primary aim of this study was to identify the competence in making a diagnosis of migraine by primary care physicians who provide basic health care to patients. METHODS: Primary care physicians (266 individuals) working in the primary health service centers located within the borders of Kayseri province were included in our study. The research was conducted by using techniques such as face-to-face meetings with the primary care physicians and by participants filling in questionnaires. A neurologist evaluated the questionnaire form. The information provided by the participants was evaluated according to the migraine without aura diagnostic criteria prepared by the International Headache Society (ICHD-3 Beta). RESULTS: Only 10.5% participants were able to give the complete diagnostic criteria of migraine without aura. The most well-known properties were unilateral (53.4%) and pulsating headaches (47%). CONCLUSION: This study showed that educational programs are required regarding migraines for primary care physicians, supported by complete educational material.

Changes in retinal vessel diameters in migraine patients during attack-free period.

AIM: To evaluate the retinal vessel diameters in patients with migraine by optical coherence tomography (OCT). METHODS: In this cross-sectional study, 124 eyes of 62 patients with a diagnosis of unilateral migraine during attack-free period and 42 age- and sex-matched control subjects were included. Migraine patients were divided into the ≤2 migraine attacks per month group and the ≥5 migraine attacks per month group. All subjects underwent complete ophthalmological and neurological examinations before measurements. Retinal vessel diameters and choroidal thickness were examined with the Spectralis OCT. RESULTS: The mean diameters of the arteries in the eyes on the headache side of control group, ≥5 migraine attacks per month and ≤2 migraine attacks per month group at 480 µm from the optic disk (Raster 3) were 119.54±46.69, 136.68±25.93 and 119.34±31.75 µm respectively with a steady decline to 105.57±32.15, 118.18±31.87 and 108.05±38.77 µm at 1440 µm (Raster 7), the last measurement point, respectively. The retinal artery diameter measurements were significantly increased in ≥5 migraine attacks per month patients at four out of five measured points compared to control group (P<0.05). There were no statistical differences at any of the points of vein measurements. The choroidal thickness measurements were significantly decreased in ≥5 migraine attacks per month patients at all measured points compared to control group (P<0.05). CONCLUSION: The retinal artery diameter is found to increase significantly and the choroidal thickness is found to decrease in the eyes on the headache side in ≥5 migraine attacks per month patients compared to control group.

Obstructive sleep apnoea syndrome is associated with relative hypocortisolemia and decreased hypothalamo-pituitary-adrenal axis response to 1 and 250µg ACTH and glucagon stimulation tests.

OBJECTIVE: The investigations regarding the effect of obstructive sleep apnoea syndrome (OSAS) on hypothalamo-pituitary-adrenal (HPA) axis revealed conflicting results. We aimed to evaluate the effects of OSAS on HPA-axis with dynamic tests. METHODS: This study was carried out on 26 patients with OSAS and 15 subjects without OSAS which, were defined according to the International Classification of Sleep Disorders. Patients were enrolled from either Endocrinology outpatient clinic or Neurology Sleep Center. Participants for the control group were included from the patients admitting to Endocrinology Department with the complaint of obesity or volunteers from hospital staff. All the participants were evaluated by polysomnography (PSG) and dynamic tests of HPA axis (dexamethasone suppression test, 1 and 250µg ACTH and glucagon stimulation tests). RESULTS: Serum basal and peak cortisol levels were found to be lower in OSAS patients when compared to the control group during 1µg ACTH and glucagon stimulation tests. When the area under curve (AUC) of cortisol responses to dynamic stimulation tests were calculated according to trapezoid formula, patients with OSAS were found to have lower values compared to control group. AUC responses of all three dynamic stimulation tests were found to be negatively correlated with AHI. CONCLUSION: OSAS is associated with relative hypocortisolemia in the morning with reduced responses to 1 and 250µg ACTH and glucagon stimulation tests.

Association of amyotrophic lateral sclerosis and Behcet's disease: is there a relationship? A multi-national case series.

Neurological involvement may be seen in 5-30% of the patients with Behcet's disease (BD). Occasionally, parenchymal neurological involvement in BD can present as a spinal cord syndrome. However, motor neuron disease-like presentation is extremely uncommon. Here we are reporting five patients (all male; median age, 38) fulfilling both International Study Group criteria for BD and El Escorial criteria for amyotrophic lateral sclerosis (ALS). These patients were identified by a questionnaire sent to the members of the Neuro-Behcet Study Group of the International Study Group for BD. Three out of five patients had only motor presentations. In two patients, sensory and urinary manifestations were present as well. Spinal cord MRIs were normal in all, and brain MRIs were normal in four patients; one patient had nonspecific white matter changes. Two patients passed away 1-3 years after diagnosis of ALS, and two patients were lost to follow-up 3 and 11 years after admission; one patient is still alive 3 years after onset. The patients that are presented here might represent a rare form of neurological involvement in BD as well as sole coincidence. Larger prospective series are needed to further answer this issue.