[Show abstract][Hide abstract] ABSTRACT: Background: The HLA-DQB1*06:02 allele across all ethnic groups and the rs5770917 variation between CPT1B and CHKB genes in Japanese and Koreans are common genetic susceptibility factors for narcolepsy. This comprehensive genetic study sought to assess variations in CHKB and CPT1B susceptibility genes and HLA-DQB1*06:02 allele status in Turkish patients with narcolepsy and healthy persons. Methods: CHKB/CPT1B genes were sequenced in patients with narcolepsy (n=37) and healthy persons (n=100) to detect variations. The HLA-DQB1*06:02 allele status was determined by sequence specific polymerase chain reaction. Results: The HLA-DQB1*06:02 allele was significantly more frequent in narcoleptic patients than in healthy persons (p=2×10(-7)) and in patients with narcolepsy and cataplexy than in those without (p=0.018). The mean of the multiple sleep latency test, sleep-onset rapid eye movement periods, and frequency of sleep paralysis significantly differed in the HLA-DQB1*06:02-positive patients. rs5770917, rs5770911, rs2269381, and rs2269382 were detected together as a haplotype in three patients and 11 healthy persons. In addition to this haplotype, the indel variation (rs144647670) was detected in the 5' upstream region of the human CHKB gene in the patients and healthy persons carrying four variants together. Conclusion: This study identified a novel haplotype consisting of the indel variation, which had not been detected in previous studies in Japanese and Korean populations, and observed four single-nucleotide polymorphisms in CHKB/CPT1B. The study confirmed the association of the HLA-DQB1*06:02 allele with narcolepsy and cataplexy susceptibility. The findings suggest that the presence of HLA-DQB1*06:02 may be a predictor of cataplexy in narcoleptic patients and could therefore be used as an additional diagnostic marker alongside hypocretin.
Genetic Testing and Molecular Biomarkers 02/2014; · 1.44 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Subependymal nodular heterotopia (SNH) is a cortical development malformation that is commonly associated with medically resistant epilepsy. Cases of SNH are challenging to treat surgically because there are typically multiple nodules, which may be involved in epileptogenesis. Moreover, dual pathology may exist in these patients. Here, we present a case with unilateral subependymal heterotopic nodules associated with ipsilateral hippocampal atrophy. Invasive and non-invasive work-ups revealed that the hippocampus was the actual ictal onset zone and that the SNH was not involved. An anterior temporal lobectomy was carried out, and postoperative seizure outcome was class Ia at the end of 2 years. The case demonstrates that SNH may not play a major role in patients with dual pathology. However, direct electroencephalography (EEG) recording from areas of SNH and other possible epileptogenic regions is indispensable in defining the ictal onset zone and avoiding poor surgical outcomes.
[Show abstract][Hide abstract] ABSTRACT: Paraneoplastic limbic encephalitis (PLE) associated with small cell lung cancer (SCLC) often presents with antibodies to intracellular antigens and a poor outcome even after tumor resection and immunotherapy. We report a PLE patient presenting with generalized seizures, shortterm memory impairment and medial temporal lobe hyperintensity in MRI. Initial screening revealed significantly elevated thyroid antibody levels suggesting Hashimoto's encephalopathy. Following methylprednisolone treatment, her seizures ceased, MRI findings disappeared and memory impairment showed a partial resolution in 5 months. Two months later, she developed further generalized seizures. Chest X-ray showed a mass lesion, which was demonstrated by needle biopsy to be a small cell lung carcinoma (SCLC). The panel of onconeural antibodies including cell-membrane antigens was negative. However, the patient's serum and cerebrospinal fluid IgG, obtained during both exacerbations, immunolabeled cytoplasm and dendrites of Purkinje cells, cerebellar and hippocampal molecular layers, basal ganglia, thalamus, and the surface of cultured hippocampal neurons, in a manner distinct from previously identified neuropil antibodies associated with SCLC. These neuropil antibodies appear to be associated with a favorable response to treatment. Further studies are required for determination of the target antigen.
[Show abstract][Hide abstract] ABSTRACT: The aim of the study was to assess the effect of breathing and physical exercise on pulmonary functions, apnea-hypopnea index (AHI), and quality of life in patients with obstructive sleep apnea syndrome (OSAS).
Twenty patients with mild to moderate OSAS were included in the study either as exercise or control group. The control group did not receive any treatment, whereas the exercise group received exercise training. Exercise program consisting of breathing and aerobic exercises was applied for 1.5 h 3 days weekly for 12 weeks. Two groups were assessed through clinical and laboratory measurements after 12 weeks. In the evaluations, bicycle ergometer test was used for exercise capacity, pulmonary function test, maximal inspiratory-expiratory pressure for pulmonary functions, polysomnography for AHI, sleep parameters, Functional Outcomes of Sleep Questionnaire (FOSQ), Short Form-36 (SF-36) for quality of sleep and health-related quality of health, Epworth Sleepiness Scale for daytime sleepiness, and anthropometric measurements for anthropometric characteristics.
In the control group, the outcomes prior to and following 12-weeks follow-up period were found to be similar. In the exercise group, no change was found in the anthropometric and respiratory measurements (P > 0.05), whereas significant improvements were found in exercise capacity, AHI, and FOSQ and SF-36 (P < 0.05). After the follow-up period, it was shown that improvement in the experimental group did not lead to a statistically significant difference between the two groups (P > 0.05).
Exercise appears not to change anthropometric characteristics and respiratory functions while it improves AHI, health-related quality of life, quality of sleep, and exercise capacity in the patients with mild to moderate OSAS.
Sleep And Breathing 11/2009; 15(1):49-56. · 2.26 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We present a case of mesencephalic cavernoma, which caused various interesting clinical symptoms. A 58-year-old man was admitted to the emergency unit with a history of sudden, bilateral ptosis. Neurological examination revealed bilateral ptosis-limited elevation of both eyes, limited depression and adduction of the left eye, and a monocular abducting nystagmus in the right eye. Computed tomography showed a small hematoma in the mesencephalon and magnetic resonance imaging revealed a cavernoma with a hemorrhage. The patient was treated conservatively. Three months later, his bilateral ptosis had resolved and both the depression and the adduction of the left eye had improved. A year later, ocular motility had normalized. He subsequently presented with obstructive hydrocephalus, which was resolved with endoscopic third ventriculostomy.
[Show abstract][Hide abstract] ABSTRACT: This paper introduces a three-stage procedure based on artificial neural networks for the automatic detection of epileptiform events (EVs) in a multichannel electroencephalogram (EEG) signal. In the first stage, two discrete perceptrons fed by six features are used to classify EEG peaks into three subgroups: 1) definite epileptiform transients (ETs); 2) definite non-ETs; and 3) possible ETs and possible non-ETs. The pre-classification done in the first stage not only reduces the computation time but also increases the overall detection performance of the procedure. In the second stage, the peaks falling into the third group are aimed to be separated from each other by a nonlinear artificial neural network that would function as a postclassifier whose input is a vector of 41 consecutive sample values obtained from each peak. Different networks, i.e., a backpropagation multilayer perceptron and two radial basis function networks trained by a hybrid method and a support vector method, respectively, are constructed as the postclassifier and then compared in terms of their classification performances. In the third stage, multichannel information is integrated into the system for contributing to the process of identifying an EV by the electroencephalographers (EEGers). After the integration of multichannel information, the overall performance of the system is determined with respect to EVs. Visual evaluation, by two EEGers, of 19 channel EEG records of 10 epileptic patients showed that the best performance is obtained with a radial basis support vector machine providing an average sensitivity of 89.1%, an average selectivity of 85.9%, and a false detection rate (per hour) of 7.5.
[Show abstract][Hide abstract] ABSTRACT: We studied motor cortical thresholds (TIs) and cortical silent periods (SPs) evoked by transcranial magnetic stimulation (TMS) in 110 epileptic patients. Sixty-two had primary generalised, 48 had partial type seizures. Fifteen out 110 patients were analysed both before and after anticonvulsant medication. Our aims were to evaluate the TI levels and the duration of SPs in patients with epilepsy and to determine the reliability of TMS in patients with epilepsy. There was no negative effect of TMS on the clinical status and EEG findings in patients with epilepsy. TIs obtained from patients with partial epilepsy were higher than those obtained from both controls and primary epileptics. The duration of SP in patients with primary epileptics was more prolonged than those obtained from controls. There was no correlation between EEG lateralisation and both SP duration and TI values. In de novo patient group, SP duration was significantly prolonged after anticonvulsant medication. We concluded that TMS is a reliable electrophysiological investigation in patients with epilepsy. The analysis of SP duration may be an appropriate investigation in monitoring the effect of anticonvulsant medication on the cortical inhibitory activity.
[Show abstract][Hide abstract] ABSTRACT: To find out whether there is a relationship between the headache characteristics and polysomnographic findings in patients with prediagnosis of the sleep apnea syndrome (SAS) and, if there is, to search for its possible cause.
Chronic morning headache is considered by many to be an important part of the SAS. Some reports support this relationship, and some do not.
We questioned 75 patients with SAS about headache. Headaches were classified according to the International Headache Society (IHS-88) system. We evaluated the relationship between headache and polysomnographic findings.
There was no statistically significant relationship between headache and apnea hypopnea index (AHI) or minimal oxygen saturation (P >.05).
We could not demonstrate a statistically significant relationship between headache, AHI, and minimal oxygen saturation in our patients with SAS.
Headache The Journal of Head and Face Pain 06/2004; 44(6):603-6. · 2.94 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Thyroxine-induced epilepsy is a very rare condition occurring in epileptic patients. Here we report a boy with thyroxine-induced hypermotor seizure (HMS) following thyroxine administration for his central hypothyroidism secondary to surgery and cranial radiation for his brain tumor. After 3 years seizure-free period, he had repeated HMS, seven to eight attacks per day, after initiation L-thyroxine treatment. Following reduction of the daily thyroxine dose, his seizures decreased in frequency. To our knowledge, this is the first reported case of HMS associated with L-thyroxine administration.
[Show abstract][Hide abstract] ABSTRACT: It is well known that multiple sclerosis (MS) is a demyelinating disease of the central nervous system that mostly starts in the second to third decade. In the present study, we reviewed our own observations of the clinical and paraclinical features in the 36 of 890 (4.04%) MS patients whose symptoms started before 16 years of age. The average age at onset of the disease in these 36 patients was 12.9 years. In 18 patients, the disease onset was monosymptomatic. Diplopia and sensory disturbances were the most common initial manifestations and occurred in 27.7% of cases. Twenty-one patients (59%) had a relapsing and 11 patients (30.5%) had a secondary progressive course. On the last evaluation, the EDSS score was above 5 in 11 patients and it was below 5 in 21 patients. As a result of this study, we concluded that childhood onset MS does not significantly differ from that it has been typically seen in adults in terms of major clinical manifestations and course of disease.
Brain and Development 07/2003; 25(4):233-6. · 1.67 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: A 12-year-old male with subacute sclerosing panencephalitis is presented. Magnetic resonance imaging revealed basal ganglia involvement without white matter changes for several months. Basal ganglia changes are not infrequent in subacute sclerosing panencephalitis, but they tend to appear in advanced clinical stages. Prominent basal ganglia involvement may occur very rarely in subacute sclerosing panencephalitis. In our patient, serial magnetic resonance imaging demonstrated the involvement of white matter after 2 years of magnetic resonance imaging follow-up. In contrast with the neuroradiologic progression, our patient's clinical status remained stable.
[Show abstract][Hide abstract] ABSTRACT: Hereditary motor and sensory neuropathy (HMSN) is a heterogeneous group of peripheral neuropathies which are diagnosed on the basis of clinical, electrophysiological and neuropathological findings. Among the hypertrophic demyelinating neuropathies, HMSN III is the most severe. It is often associated with de novo mutations in the genes encoding for peripheral myelin proteins. While peripheral nerve hypertrophy is an expected finding in HMSN III, cranial nerve hypertrophy is exceptional. Here we describe a mutation in the PMP22 gene in a 19-year-old man with infantile onset of sensory motor polyneuropathy without family history and multiple cranial nerve hypertrophy shown by cranial magnetic resonance imaging.
Journal of Neurology 04/2001; 248(3):193-6. · 3.58 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: ZET Çocukluk Multipl Skleroz (MS)7am:in ender görülü şü ve atipik semptomlar ı MRG öncesi dönemde klinik tan ıda büyük güçlüklere neden olmu ştur. Literatürde 16 yaş öncesi dönemde başlangı ç gösteren, kesin MS tan ılı olgu sayısı sınırlıdır. Bu çalışmada DEÜTF Nöroloji Anabilim Dal MS poliklini ğine kay ıtlı 16 yaş öncesi başlangıca sahip 23 MS (8 E, 15 K) olgusu sunulmaktad ır. Bu olgular MS poliklini ğine kay ıtlı tüm olguların % 5 .6'sını oluş-turmaktadır. En küçük başlangıç yaşı 9 yıl, ortalama başlangıç yaşı 13.2 yıldır. Ortalama hastalık süresi 12.1 y ıl olup, polikliniğimiz tarafindan ortalama izleme süresi 5 yı ldır. Poser ve ark.'mn kriterlerine göre 20 olgu de-finite, 3 olgu probable MS dur. 1 olguda MS için pozitif aile öyküsü vard ır. Olguların 15'i remisyon ek-saserbasyonlu, biri primer progressif, 6'sı sekonder progressif seyir göstermiş olup, 1 olgu ilk ataktadır. Son kontrolde ortalama EDSS skoru 3 .42'dir. izleme dönemi içinde 1 olgu eksitus olmu ştur. Hastaların % 78.3'sında beyin sapı , % 60.9'ında piramidal, % 52.2'inde serebellar, % 47 .8'inde optik sinir, % 26.1'inde spinal tutuluş ve % 4.3'ünde mental bozukluk saptanm ıştır. Bir olguda (% 4.3) izleme döneminde epileptik nöbet ortaya ç ıkm ıştır. Hastaların I 8'ine MRG yap ılm ış, 16 olguda (% 88) MRG da demyelinizan hastal ık için pozitif bulgu sap-tanmıştır. 21 olguda evok potansiyeller incelenmiş, % 66.6'sında patolojik VEP, % 66.6's ında patolojik SEP ve % 38.1'inde patolojk BAEP elde edilmi ştir. Bulgularım ız literatürdeki çocuk olguların özellikleri ile kar-şılaştırılm ış, erişkinlere göre göstermiş oldukları farklılıklar belirlenmiştir. Anahtar kelimeler: Çocukluk multipl sklerozu Düşünen Adam; 1994, 7 (4): 42-46 SUMMARY Because of the rarity of Multiple Sclerosis (MS) in childhood, the child with suspected MS may present a difficult diagnostic problem. There have been relatively few number of clinical reports of cases with onset of MS under the age of 16. We present clinical data from 23 patients with MS who had onset of disease before 16 years of age, that is 5.6 % of a total population of 412 MS patients. The average age at onset was 13.2 years and the ave-rage duration of the disease was 12.1 years. Twenty (78 %) patients had definite MS, 3 patients (13 %) had pro-bable MS according to Poser's criteria. Family history was positive only for one patient. Fifteen (65.2 %) pa-tients had a relapsing-remitting course, 6 patients (26.1 %) had secondary progressive course, 1 patient (4.3 %) had primary progressive course, and 1 patient (4.3 %) had first attack. One patient died during follow-up pe-riod. On last control, the average EDSS score was 3.42. Percentage frequencies for neurologic deficits in our patients were brainstem involvement 78.3 %, pyramidal signs 60.9 %, cerebellar signs 52.2 %, optic neuritis 47.8 %, myelopathy 26.1 %, and mental impairment 4.3 %. MRI was performed in 18 patients and 16 of them (88 %) had cerebral white matter lesions in T2 weighted images. In twenty-one patients multimodality evoked potentials were examined, both VEP and SEP showed abnormalities in 14 (66.6 %) of them, BAEP ab-normalities were obtained in 8 (38.1 %) of them. In this study, we discussed our findings with the findings of other studies of childhood MS and compared the differences with adult onset cases.