A Shift of the Pupillary Balance Towards the Parasymphathetic System in Migraine Patients with Aura.

Introduction: To analyze the static and dynamic pupillometrics in migraine patients with aura and compare these parameters to those in age- and sex-matched healthy participants. Methods: This cross-sectional study included 34 patients with migraine and 37 healthy participants as a control group. The static pupillometrics consisted of scotopic pupil diameter (PD), mesopic PD, and low and high photopic PD. The dynamic pupillometrics were as follows: the initial diameter, amplitude of pupil contraction, latency of pupil contraction, duration of pupil contraction, velocity of pupil contraction, latency of pupil dilation, duration of pupil dilation, and velocity of pupil dilation. All participants were evaluated during a headache-free period. An automatic quantitative infrared pupillometry system was used to examine the pupillary characteristics of the eyes. Results: The static and dynamic pupillary parameters except the latency of pupil contraction did not significantly differ between the migraine patients during an attack-free period and the healthy participants. The latency of pupil contraction was significantly statistically lower in migraine group than healthy subjects. Also, the scotopic PD differed significantly in the inter-eye comparison within migraine patients (p<0.05). Conclusion: A significant inter-eye difference in scotopic PD values and the lower latency of pupil contraction in migraine patients with aura in the headache-free period might be attributed to a shift of the pupillary balance towards the parasymphathetic system.

Neuropathic Pain Frequency in Neurology Outpatients: A Multicenter Study.

INTRODUCTION: Neuropathic pain is common, but the frequency of misdiagnosis and irrational treatment is high. The aim of this study is to evaluate the rate of neuropathic pain in neurology outpatient clinics by using valid and reliable scales and review the treatments of patients. METHODS: The study was conducted for 3 months in eleven tertiary health care facilities. All outpatients were asked about neuropathic pain symptoms. Patients with previous neuropathic pain diagnosis or who have neuropathic pain symptoms were included and asked to fill painDETECT and douleur neuropathic en 4 questions (DN4) questionnaire. Patients whose DN4 score is higher than 3 and/or painDETECT score higher than 13 and/or who are on drugs for neuropathic pain were considered patients with neuropathic pain. The frequency of neuropathic pain was calculated and the treatments of patients with neuropathic pain were recorded. RESULTS: Neuropathic pain frequency was 2.7% (95% CI: 1.5-4.9). The most common cause was diabetic neuropathy. According to painDETECT, the mean overall pain intensity was 5.7±2.4, being lower among patients receiving treatment. Pharmacological neuropathic pain treatment was used by 72.8% of patients and the most common drug was pregabalin. However, 70% of those receiving gabapentinoids were using ineffective doses. Besides, 4.6% of the patients were on medications which are not listed in neuropathic pain treatment guidelines. CONCLUSION: In our cohort, the neuropathic pain severity was moderate and the frequency was lower than the literature. Although there are many guidelines, high proportion of patients were being treated by ineffective dosages or irrational treatments.

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.

BACKGROUND AND PURPOSE: Pathogenic variants in PLEKHG5 have been reported to date to be causative in three unrelated families with autosomal recessive intermediate Charcot-Marie-Tooth disease (CMT) and in one consanguineous family with spinal muscular atrophy (SMA). PLEKHG5 is known to be expressed in the human peripheral nervous system, and previous studies have shown its function in axon terminal autophagy of synaptic vesicles, lending support to its underlying pathogenetic mechanism. Despite this, there is limited knowledge of the clinical and genetic spectrum of disease. METHODS: We leverage the diagnostic utility of exome and genome sequencing and describe novel biallelic variants in PLEKHG5 in 13 individuals from nine unrelated families originating from four different countries. We compare our phenotypic and genotypic findings with a comprehensive review of cases previously described in the literature. RESULTS: We found that patients presented with variable disease severity at different ages of onset (8-25 years). In our cases, weakness usually started proximally, progressing distally, and can be associated with intermediate slow conduction velocities and minor clinical sensory involvement. We report three novel nonsense and four novel missense pathogenic variants associated with these PLEKHG5-associated neuropathies, which are phenotypically spinal muscular atrophy (SMA) or intermediate Charcot-Marie-Tooth disease. CONCLUSIONS: PLEKHG5-associated neuropathies should be considered as an important differential in non-5q SMAs even in the presence of mild sensory impairment and a candidate causative gene for a wide range of hereditary neuropathies. We present this series of cases to further the understanding of the phenotypic and molecular spectrum of PLEKHG5-associated diseases.

[Validation of the revised illness perception questionnaire for migraine patients and the effects of earthquake experience on perception of disease]. / Migren hastalarinda revize hastalik algisi ölçeginin geçerliligi ve deprem tecrübesinin hastalik algisi üzerine etkisi.

OBJECTIVES: The aim of this study was to investigate the reliability of the Revised Illness Perception Questionnaire (IPQ) and to determine the effects of earthquake experience on the perception in migraine patients. METHODS: The sample was composed of 62 outpatients, consisting of with migraine diagnosis who were in Ercis during earthquake (n=33) and who had never had any earthquake experience (n=29).The interview form, IPQ-R and Beck Depression Scale (BDS) were applied. The study was carried out on migraine patients whose mean age was 31 and who had been diagnosed since 7.8 years. Comparison of groups with earthquake experience (group1) and without experience (group 2) there were no difference in point of demographic findings and disease severity (p>0.05). RESULTS: In the part concerning the manifestations of the disease, the most frequently manifestations were found pain, headache and fatige. The test was determined to be reliable. Illness coherence and timeline (cyclic) subscale scores (p<0.05) and BDS score (z: -2.006, p<0.05)were significantly higher in group 1. Although an earthquake caused an increase in depression scores did not cause much change in the IPQ-R scores. Group1 understand disease better and realize of the cyclical nature of the disease. Other perception parameters of the disease were same in both groups. CONCLUSION: A severe life event such as an earthquake did not much change IPQ-R scores in migraine patients. The results of this study demonstrated that IPQ could be used reliably in the Turkish migraine patients.

Validation of the Revised Illness Perception Questionnaire in Turkish epilepsy patients and the effects of earthquake experience on perception of disease.

OBJECTIVE: The aims of this study were to investigate the reliability of the Revised Illness Perception Questionnaire (IPQ-R) in Turkish patients with epilepsy (PWE) and to determine the effects of earthquake experience on the perception of disease in patients. MATERIALS AND METHODS: The sample was composed of 48 PWE, who were affected by the 2011 earthquake (n=21) or who had never had any earthquake experience (n=27). The interview form, IPQ-R, and Beck Depression Scale (BDS) were applied. RESULTS: The study was carried out on PWE whose mean age was 20.9 years (±8.1 years) and who had been diagnosed within the last 10 years (±6.9 years). IPQ-R consisted of three parts: illness identity, attributions concerning the disease, and probable causes. In the part of illness identity, the most frequently met manifestations were fatigue (76.6%) and headache (72.9%). Regarding attributions concerning the disease and probable causes, the test was determined to be reliable (reliability coefficient 0.715-0.814). In terms of personal control, timeline (acute/chronic), emotional representations, illness coherence, consequences, treatment control, and timeline sub-scales, which were investigated at the dimension about attributions concerning the disease, and psychological causal attributions, risk factors, and immunity subscales, which were investigated at the dimension about probable causes, no significant differences were found between groups (P>0.05). No difference was determined in terms of BDS scores (z=-0.895, P>0.05). CONCLUSION: The results of this study demonstrated that IPQ-R could be used reliably in the Turkish PWE. A severe life event such as an earthquake did not change IPQ-R scores in PWE.

Antioxidative-oxidative balance in epilepsy patients on antiepileptic therapy: a prospective case-control study.

Oxidative stress has been implicated in various disorders, including epilepsy. The aim of this study was to investigate the oxidant and antioxidant status of patients with epilepsy using antiepileptic drugs regularly and to compare them with healthy subjects. We investigated serum catalase (CAT), malondialdehyde (MDA), glutathione peroxidase (GSH-Px), superoxide dismutase (SOD), and xanthine oxidase (XO) levels in 58 epilepsy patients and 25 healthy controls. Patients were divided into polytherapy (n = 17) and monotherapy (n = 41) groups, and antioxidant status was compared between the two groups and controls. There was no significant difference between the patient and control groups in terms of age or gender (p > 0.05). The mean duration of illness in the patients was 14.8 years, and the mean duration of treatment was 11.4 years. Comparison of the patient and control groups in terms of oxidative stress and antioxidant defence parameters revealed significantly higher MDA, GSH-Px, XO and lower level of CAT, SOD levels (p < 0.05). There were no differences in CAT, MDA, GSH-Px or SOD levels between the monotherapy and polytherapy groups; but the XO level was higher in the monotherapy group (p < 0.05). Although the XO level was decreased by polytherapy, it was higher than in controls. Our study found significantly low level of antioxidants in patients with epilepsy as compared to control. Thus, antiepileptic treatment did not improve oxidative stress parameters. Furthermore, our results show that polytherapy does not change the situation as compared with monotherapy. Antioxidant replacement therapy may benefit these patients.

Three Turkish families with different transthyretin mutations.

Transthyretin (TTR)-related hereditary amyloidosis, also called familial amyloid polyneuropathy (FAP), is a rare autosomal dominant systemic disorder that presents with progressive axonal sensory, autonomic and/or motor neuropathies. The present report describes three families with three different TTR mutations who were followed from 1995 to 2014. Only one of these families expressed the Val30Met mutation, which is the most common mutation in endemic regions; all members of this family had late disease onset but varied severities and clinical presentations of the disease. The second family expressed the Thr49Ser mutation, which has not been well documented previously. Our limited experience obtained from these patients indicates that this mutation presents with autonomic neuropathy but a greater degree of cardiac involvement, especially fatal heart failure. The third mutation, Glu54Lys, has been identified as a cause of severe familial amyloid polyneuropathy; the family members with this mutation exhibited severe motor and autonomic neuropathy, early vitreous opacity, and fatal heart failure. Three of the patients with the Val30Met mutation were treated with tafamidis for longer than one year and cessation of the polyneuropathy resulted. However, a short trial of tafamidis in two patients with the Glu54Lys mutation, who showed severe systemic and neurological involvement, did not gain any clinical benefits.