Novel SNARE Complex Polymorphisms Associated with Multiple Sclerosis: Signs of Synaptopathy in Multiple Sclerosis

Background: It is well known that axonal degeneration plays a role in disability in patients with multiple sclerosis, and synaptopathy has recently become an important issue.Aims: To investigate the possible roles of selected synaptic and presynaptic membrane protein genetic polymorphisms (VAMP2, SNAP-25, synaptotagmin, and syntaxin 1A) in patients with multiple sclerosis.Study Design: Case-control study.Methods: A total of 123 patients with multiple sclerosis and 192 healthy controls were included. The functional polymorphisms of specific SNARE complex proteins (VAMP2, synaptotagmin XI, syntaxin 1A, and SNAP-25) were analyzed by polymerase chain reaction.Results: Significant differences were detected in the genotype and allele distribution of 26-bp Ins/Del polymorphisms of VAMP2 between patients with multiple sclerosis and control subjects; Del/Del genotype and Del allele of VAMP2 were more frequent in patients with multiple sclerosis (p=0.011 and p=0.004, respectively). Similarly, Ddel polymorphism of SNAP-25 gene C/C genotype (p=0.059), syntaxin 1A T/C and C/C genotypes (p=0.005), and synaptotagmin XI gene C allele (p=0.001) were observed more frequently in patients with multiple sclerosis. CC, syntaxin rs1569061 1A gene for 33-bp promoter region TC haplotypes, and synaptotagmin XI gene were found to be associated with an increased risk for multiple sclerosis (p=0.012). Similarly, GC haplotype for rs3746544 of SNAP-25 gene and rs1051312 of SNAP-25 gene were associated with an increased risk for multiple sclerosis (p=0.022).Conclusion: Genetic polymorphisms of SNARE complex proteins, which have critical roles in synaptic structure and communication, may play a role in the development of multiple sclerosis

Identification of Allodynic Migraine Patients with the Turkish Version of the Allodynia Symptom Checklist: Reliability and Consistency Study Allodini Varlığının Migren Hastalarında Allodini Semptom Anketi Tükçe Versiyonu (ASC/T) ile Saptanması: Geçerlilik

Introduction: Cutaneous allodynia is regarded as an expression of central sensitization in migraine. Although the gold standard is quantitative sensory testing, several practical assessment questionnaires have been developed to assess allodynia in migraine. We aimed to establish the first valid Turkish allodynia assessment questionnaire based on a 12-item allodynia symptom checklist and to evaluate the associated factors. Methods: The first part of the study included the translation and cultural adaptation of a Turkish version of the checklist. The Turkish version of the questionnaire was administered to 344 episodic and chronic migraine patients, who were chosen according to the International Classification of Headache Disorders -III beta criteria. Results: The total checklist score showed excellent test-retest reliability (r=0.821). The internal consistency of the checklist was assessed using Cronbach alpha values and was found to be acceptable (Cronbach alpha for the checklist=0.767). Data analysis revealed that 10 items of the questionnaire adequately identified allodynic subjects. Cutaneous allodynia was present in 218 (63.4%) migraine patients. Allodynia was more prominent in patients experiencing migraine with aura (p=0.008) and in females (p<0.001). Multiple logistic regression analysis found that female gender, aura existence, longer headache duration, and higher attack frequency were the major determinants of cutaneous allodynia. Conclusion: Allodynia is common and has clinical significance in migraine; therefore, establishing a validated Turkish questionnaire for the assessment of allodynia was necessary. In this study, a Turkish version of the allodynia symptom checklist was validated and found to be convenient for the identification of allodynia in migraine patients. Keywords: Migraine, cutaneous allodynia, checklist, validity ABSTRACT Amaç: Kutanöz allodini migrende santral sensitizasyonun göstergesi olarak kabul edilmektedir. Altın standart kantitatif duysal test olmasına ragmen, migren hastalarında allodini araştırılması için geliştirilmiş çok sayıda anket bulunmaktadır. Bu çalışmada 12 madde içeren allodini semptom anketinin (ASC) Türkçeye uyarlanması ile ilk Türkçe geçerliliği gösterilmiş anketin geliştirilmesi ve ilişkili faktörlerin araştırılması amaçlandı. Yöntem: Çalışmanın birinci aşaması anketin Türkçe'ye çevirisi ve kültürel adaptasyonunu içermektedir. İkinci aşamada, geliştirilen Türkçe anket Uluslarası Başağrısı Cemiyeti Başağrısı Sınıflandırması-3 beta (ICHD-3 beta)'ya göre tanı almış 344 epizodik ve kronik migren hastasına uygulandı. Bulgular: Toplam anket skoru test-tekrar test değerlendirmesinde mü-kemmel güvenilirlik gösterdi (r=0,821). Anketin içsel tutarlılığı Kronbach Alfa Değeri ile değerlendirildi ve kabul edilebilir tutarlılık gösterdi (Anket Kronbach Alfa değeri: 0,767). Veri analizleri ankette bulunan 10 maddenin allodinik bireylerin tespit edilmesinde yeterli olduğunu gösterdi. Kutanöz allodini 218 migren hastasında (%63,4) saptandı. Allodini auralı migren hastalarında (p=0,008) ve kadınlarda daha sıktı (p<0,001). Çok-lu lojistik regresyon analizinde kadın cinsiyet, aura varlığı, uzun başağrısı süresi ve sık atak sayısının kutanöz allodini varlığının başlıca belirleyicileri olduğu gösterildi. Sonuç: Allodininin migrende sık görülmesi ve klinik açıdan önemli olması nedeniyle geçerliliği gösterilmiş bir Türkçe allodini anketi bulunmasının gerekli olduğunu düşünmekteyiz. Bu çalışmada ASC-Türkçe versiyonunun geçerliliği ve migren hastalarında allodinin saptanmasında uygun bir anket olduğu gösterilmiştir

Myelopathy: Retrospective Evaluation of Twenty-Eight Cases

Objective: Myelopathy is used to describe any neurologic deficit related to the spinal cord. Determining the etiology is important for detecting emergency situations and treating the cause. Materials and Methods: We evaluated 28 patients who were diagnosed as having and treated for myelopathy between January 2014 and January 2015 in our hospital. The clinical and laboratory findings of the patients and their response to treatment were assessed. Results: Of the 28 patients, 16 were male and 12 were female, the mean age was 48 years (range, 22-77 years). The most common initial symptoms were sensorial deficits and motor weakness. Demyelinating diseases were the most common diseases and multiple sclerosis was the most frequent etiology among demiyelinating diseases. Cervical spinal cord was the most frequent region involved in myelopathy episodes which was detected by magnetic resonance imaging on T2W images. We observed clinical improvement in 15 of the 20 patients who were treated with corticosteroids. In addition, vitamin B12 treatment led to clinical improvement in two patients who were diagnosed as having subacute combined degeneration. Conclusion: The diagnosis and etiology of myelopathy and identification of rare conditions that require emergency surgery or interventional treatments are of utmost importanc

Burden of Chronic Migraine in Tertiary Headache Outpatient Clinics: Experience of 10 years a Multicenter Study

18th International Headache Congress (IHC) of the International-Headache-Society -- SEP 07-10, 2017 -- Vancouver, CANADAWOS: 000410068300423…Int Headache So

Obstructive Sleep Apnea Syndrome, Periodic Limb Movements and Related Factors

OBJECTIVE: Obstructive sleep apnea syndrome (OSAS) is characterized by nocturnal repetitive apnea episodes. Periodic limb movements (PLMs) is nocturnal, stereotypic, repetitive movements of the lower extremities. The aim of this study was to investigate the presence of periodic limb movements in OSAS patients and correlation of PLM with OSAS severity. METHODS: One hundred and forty one OSAS suspected patients was enrolled into the study. All subjects’ blood pressure, heart rate measurements and neurologic examinations were made by the same neurologist. Sociodemographic characteristics were recorded. One night polysomnography (PSG) was performed to all patients and results were analyzed. Apnea Hypopnea Index (AHI) ≥ 5 subjects were accepted as OSAS, and PLM Index (PLMI) ≥ 5 subjects were accepted as having PLM. RESULTS: One hundred and two patients were diagnosed as OSAS. The control group consisted of 39 patients who had normal polysomnographic findings. OSAS patients’ were older and body mass index (BMI) were higher than the control group. Systolic blood pressure was higher in OSAS group. Alcohol use was determined as a risk factor for OSAS. PLM were more common in OSAS group than the control group (% 30,3 - % 10,2). PLM frequency was associated with the severity of OSAS. CONCLUSION: In OSAS patients presence of PLM was related with OSAS severity, higher systolic and diastolic blood pressure and REM sleep depletion. PLM in OSAS patients could be regarded as an indicator of disease severity and also could aware clinician for increased complication rates

Cervical vestibular-evoked myogenic potentials in patients with essential tremor

Although different neuroanatomical structures and pathways are emphasized as possible explanations for essential tremor (ET), there is still an ongoing debate. This study aimed to assess the role of brainstem and reflex pathways with cervical vestibular-evoked myogenic potentials (VEMP) in patients with ET. This prospective study included 34 patients with ET and 25 healthy controls. Cervical VEMP was performed in both groups and latencies, inter-peak latency intervals, peak-to-peak amplitudes and asymmetry ratios were recorded. There was statistically no significant difference between the groups in terms of age (38.9 ± 14.9 years vs. 38.9 ± 14.9 years, p = 0.673) and gender (female to male ratio: 14/11 vs. 20/14, p = 0.828). Right N1 latency and right N1–P1 interval were significantly longer in the patient group (p < 0.05). There was a significant positive correlation between the duration of disease and the right N1–P1 interval (p < 0.05). There was no significant difference between the patient and control groups in terms of bilateral P1 latency, left N1 latency, left N1–P1 interval, and bilateral N1 and P1 amplitudes (p˃0.05). Cervical VEMP may reveal the involvement of brainstem and associated reflex pathways in ET

A Study of the Impact of Death Receptor 4 (DR4) Gene Polymorphisms in Alzheimer"s Disease

Background: Excessive apoptosis is believed to play a role in many degenerative and non-degenerative neurological diseases including Alzheimer’s disease (AD). Much recent data suggest that apoptotic mechanisms may represent the missing link between Aβ deposition and proteolysis of tau protein. However, there is emerging evidence that apoptotic mechanisms may play a role in Alzheimer’s Disease pathogenesis in the absence of overt apoptosis. TNF-related apoptosis inducing ligand receptor 1 (Death Receptor 4, DR4) might impair the apoptotic signal transduction and lead to dysregulation of the homeostasis between cell survival and cell death. Aims: The aim of our study was to further investigate the relationship between genetic variants of DR4 and Alzheimer’s Disease. Study Design: Case control study. Methods: Sixty-eight patients with AD were included in the study. The control group comprised 72 subjects without signs of neurodegenerative diseases, as evidenced by the examination.DNA was extracted from whole blood using the salting-out procedure. Genotypes were identified by restriction fragment length polymorphism analysis of polymerase chain reaction (PCR-RFLP) products. Results: We observed significant differences in the genotypic distribution of the rs6557634 polymorphism in AD patients compared with controls (p0.05) and the DR4 rs20576 polymorphism (p>0.05). According to haplotype analysis of the DR4 gene for rs6557634, rs20575 and rs20576 polymorphisms, GCA and GCC haplotypes might be a risk factor for AD. Also, we have shown that ACA, GGC and GGA haplotypes might be protective factors against AD. Conclusion: The present results indicate for the first time the possible contribution of the DR4 gene rs6557634, rs20575, rs20576 polymorphisms in Alzheimer’s Disease, which may influence susceptibility to Alzheimer’s Disease

The relevance of associated symptoms of migraine according to migraine subtypes: A Clinical study

Siva, Aksel/0000-0002-8340-6641WOS: 000452730900140

A Case of Peduncular Hallucinosis Secondary to a Tuberothalamic Artery Infarction and Review of the Literature

Peduncular hallucinosis is a rare syndrome characterized with visual hallucinations, sleep disorders and behavioural abnormalities. Generally it occurs when thalamus and midbrain is affected by vascular lesions. In this report we aim to discuss on a case of tuberothalamic artery infarction presenting with peduncular hallusinosis with the previously reported cases in literatüre