Current Journal of Neurology
Volume:14 Issue: 1, Winter 2015

Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. Moreover, some chromosomal aberration including ring chromosomes will result in epilepsy. In this review, we intend to highlight the role of molecular genetic in etiology of epilepsy syndromes, inspect the most recent classification of International League against Epilepsy and discuss the role of genetic counseling and genetic testing in management of epilepsy syndromes. Furthermore, we emphasize on collaboration of neurologists and geneticists to improve diagnosis and management.

Female sexual dysfunction (FSD) defines as any disorder in the process of sexual contact including 6 main domains, desire, arousal, lubrication, orgasm, orgasm satisfaction and pain. This study was conducted to evaluate prevalence of sexual dysfunction disorder in women with migraine headache and also find the associated factors related to migraine characteristics. A total of 69 eligible woman patients fulfilling criteria for migraine participated in this study. The Female Sexual Function Index (FSFI), a multi-dimensional self-report implement for appraisal of Female Sexual Function during the past month were utilized in this study. The information related to migraine including frequency, duration of headache attack, severity of headache according to visual analog scale (VAS) score and headache impact test (HIT) score were obtained using a self-administrated questionnaire. About 68.4% of patients had an FSFI score < 28. In domains of desire 73.7%, arousal 64.9%, lubrication 21.1%, orgasm 33.3%, satisfaction 17.5%, and pain 40.4% of patients reported some degree of dysfunction. Among variables related to migraine characteristics, only a significant association between frequency and sexual dysfunction were recorded (P < 0.05). FSD is prevalent among migraine patients. The frequency of a migraine attack is associated with FSD. Serotonin mechanisms such as 5HT2, 5HT3 agonist have been hypothesized as a shared etiology for migraine and sexual dysfunction.

Massive ischemic stroke causes significant mortality and morbidity in stroke patients. The main treatments for massive ischemic stroke are recombinant tissue plasminogen activator (rtPA), craniotomy, and endovascular interventions. Due to destructive effects of bradykinin on the nervous system in ischemic stroke, it seems reasonable that using Noscapine as a Bradykinin antagonist may improve patients’ outcome after ischemic stroke. The effect of Noscapine on massive ischemic stroke was shown by the previous pilot study by our group. This pseudo-randomized clinical trial study was designed to assess the result of the pilot study. Patients who had clinical symptoms or computed tomography scan indicative of massive stroke (in full middle cerebral artery territory) were entered to the study. The cases received the drugs according to their turns in emergency ward (pseudo-randomized). The patient group received Noscapine, and the control group received common supportive treatments. The patients and data analyzer were blinded about the data. At the end of the study, to adjust confounding variables we used logistic regression. After 1-month follow-up, 16 patients in the control group and 11 patients in the case group expired (P = 0.193). Analyzing the data extracted from Rankin scale and Barthel index check lists, revealed no significant differences in the two groups. Despite the absence of significant statistical results in our study, the reduction rate of 16% for mortality rate in Noscapine recipients is clinically remarkable and motivates future studies with larger sample sizes.

It seems that serum vitamin D levels are one of the potential environmental factors affecting the severity of multiple sclerosis (MS). In this study, we aim to evaluate vitamin D levels in MS patients and healthy subjects and assess the relationship between vitamin D level and disability. In this case-control study, 168 rapid relapsing MS patients and 168 matched healthy controls were randomly included in this study. Demographic characteristics and serum vitamin D levels for patients and controls, as well as expanded disability status scale (EDSS), duration of disease and diagnostic lag for patients were evaluated. We followed up patients for 6 months and relapses were recorded. The mean serum vitamin D levels were 19.16 ± 17.37 inpatients and 25.39 ± 19.67 in controls (P = 0.560). The mean serum vitamin D levels were 12.65 ± 13.3 in patients with relapses and 22.08 ± 18.22 in patients without any relapses (P < 0.001). There was no significant correlation between EDSS score and serum vitamin D levels (r = −0.08, P = 0.280). There was a significant positive correlation between EDSS score and disease duration (r = 0.52, P < 0.001). In conclusion, vitamin D level in patients with MS was significantly lower than the healthy subjects, but no significant relationship was found between vitamin D levels and disability. Our findings did not suggest a protective role for serum vitamin D levels against disability.

Management of intracranial aneurysms has made debates about the best treatment modality in recent years. The aim of this study was to compare the interventional outcomes between two groups of patients, one treated with endovascular coiling and the other treated with surgical clipping. This prospective study included 48 patients with intracranial aneurysms who underwent endovascular coiling (27 patients) or surgical clipping (21 patients) from July 2011 to August 2013. A neurologist examined patients in admission and followed them by phone call 1-year after intervention. Mean modified Rankin Scale (MRS) score at the time of admission in endovascular group was 2.86 ± 0.974 whereas it was 3.81 ± 1.078 in surgical clipping group (P = 0.0040). Focal neurologic signs were higher in clipping during procedures (P = 0.0310). Of 37 patients who followed up for a year, 19 were in endovascular group and 18 in surgical clipping group. At 1 year follow-up, MRS improvement was statistically significant in coiling group (P = 0.0090), but not in clipping group (P = 0.8750). Mean difference of MRS score at the time of admission and at one year later, was 0.947 ± 1.224 in endovascular group and 0.111 ± 2.083 in surgical group (P = 0.3000). There was no statistically significant difference at 1 year outcome between two groups. We recommend further interventional studies with larger sample sizes for better evaluation of the modalities.

Distinction between radiation necrosis and recurrence of intraparenchymal tumors is necessary to select the appropriate treatment, but it is often difficult based on imaging features alone. We developed an algorithm for analyzing magnetic resonance spectroscopy (MRS) findings and studied its accuracy in differentiation between radiation necrosis and tumor recurrence. Thirty-three patients with a history of intraparenchymal brain tumor resection and radiotherapy, which had developed new enhancing lesion were evaluated by MRS and subsequently underwent reoperation. Lesions with Choline (Cho)/N-acetyl aspartate (NAA) > 1.8 or Cho/Lipid > 1 were considered as tumor recurrence and the remaining as radiation necrosis. Finally, pre-perative MRS diagnoses were compared with histopathological report. The histological diagnosis was recurrence in 25 patients and necrosis in 8 patients. Mean Cho/NAA in recurrent tumors was 2.72, but it was 1.46 in radiation necrosis (P < 0.01). Furthermore, Cho/Lipid was significantly higher in recurrent tumors (P < 0.01) with the mean of 2.78 in recurrent tumors and 0.6 in radiation necrosis. Sensitivity, specificity, and diagnostic accuracy of the algorithm for detecting tumor recurrence were 84%, 75% and 81%, respectively. MRS is a safe and informative tool for differentiating between tumor recurrence and radiation necrosis.

Serum troponin elevation, characteristic of ischemic myocardial injury, has been observed in some acute ischemic stroke (AIS) patients. Its cause and significance are still controversial. The purpose of this study is to find determinants of troponin elevation and its relationship with stroke severity and location. Between January 2013 and August 2013, 114 consecutive AIS patients confirmed by diffusion-weighted magnetic resonance imaging were recruited in this study. Serum troponin T level was measured as part of routine laboratory testing on admission. Ten lead standard electrocardiogram (ECG) was performed and stoke severity was assessed based on National Institutes of Health Stroke Scale (NIHSS). Troponin T was elevated in 20 (17.6%) of 114 patients. Patients with elevated troponin were more likely to have higher age, higher serum creatinine and ischemic ECG changes. Troponin levels were higher in patients with more severe stroke measured by NIHSS [7.96 (6.49-9.78) vs. 13.59 (10.28-18.00)]. There was no association between troponin and locations of stroke and atrial fibrillation. There were 6 (5%) patients with elevated troponin in the presence of normal creatinine and ECG. Stroke severity, not its location, was associated with higher troponin levels. Abnormal troponin levels are more likely, but not exclusively, to be due to cardiac and renal causes than cerebral ones.

H-reflex is a valuable electrophysiological technique for assessing nerve conduction through entire length of afferent and efferent pathways, especially nerve roots and proximal segments of peripheral nerves. The aim of this study was to investigate the relation between normal values of flexor carpi radialis (FCR) H-reflex latency, upper limb length and age in normal subjects, and to determine whether there is any regression equation between them. By considering the criteria of inclusion and exclusion, 120 upper limbs of 69 normal volunteers (68 hands of 39 men and 52 hands of 30 women) with the mean age of 39.8 ± 11.2 years participated in this study. FCR H-reflex was obtained by standard electrodiagnostic techniques, and its onset latency was recorded. Upper limb length and arm length were measured in defined position. The degree of association between these variables was determined with Pearson correlation and linear regression was used for obtaining the proposed relations. Mean FCR H-reflex latency was found to be 15.88 ± 1.27 ms. There was a direct linear correlation between FCR H-reflex latency and upper limb length (r = 0.647) and also arm length (r = 0.574), but there was no significant correlation between age and FCR H-reflex latency (P = 0.260). Finally, based on our findings, we tried to formulate these relations by statistical methods. We found that upper limb length and arm length are good predictive values for estimation of normal FCR H-reflex latency butage, in the range of 20-60 years old, has no correlation with its latency. This estimation could have practical indications in pathologic conditions.

The etiology of ischemic stroke remains unidentified by routine diagnostic testing in about 40% of patients.1 Patent foramen ovale (PFO) has been proposed as a possible cause of paradoxical cardioembolism and is found in 27% of unselected adults.2 Nevertheless, the specific category of PFO bearers, who are prone to ischemic stroke, remains unidentified.3 This study aims to determine the differences of some characters of PFO between patients with ischemic stroke in whom PFO was associated with another major source of stroke and those with PFOs as the primary cause of ischemic stroke. We compared and contrasted transesophageal echocardiography (TEE) and transcranial Doppler sonography findings between the patients with cryptogenic stroke and the patients with stroke of determined cause. A sunray transcranial Doppler ultrasound device version FD-T98II (Guangzhou Doppler Electronic Technologies, China) was used in all the patients. The device was set to a small sample volume of 10 mm in length and minimum possible gain to provide a setting optimal for micro-embolic signal (MES) discrimination from the background spectrum. The MES was defined as typical visible and audible (chirp, click), short duration (0.1 s) and high-intensity signals within the Doppler flow spectrum. The number of MES was counted using Valsalva maneuver (VM) and was graded as 0, І, ІІ or ІІІ if 0, 1-9, 10-49 or ≥ 50 MES, respectively, were detected. TEE was performed to identify any potential cardiac source of embolism. Diagnosis of PFO was based on the presence of at least 3 bubbles in the left atrium after 4 cardiac cycles of the right atrium became opaque with contrast bubbles. The shunt was graded as І, ІІ, or ІІІ if 3-9, 10-49, or ≥ 50 bubbles, respectively, were visualized in the left atrium. The maximal diameter of PFO was measured in the same view. Those PFOs with a diameter < 2 mm were considered as small, 2-4 mm as moderate, and ≥ 4 mm as large. In addition, we compared the conventional risk factors for ischemic stroke and the presence of migraine headache (MH) between these two groups.

Neuroacanthocytosis is an autosomal recessive neurodegenerative disease, characterized by chorea, dementia, seizure, acanthocytes on peripheral blood smear and caudate atrophy on brain magnetic resonance imaging (MRI).1,2These patients have severe orofacial dyskinesia and especially eating dystonia that causes severe eating problems and tongue and cheek biting. Eating or feeding dystonia, in combination with the above-mentioned signs and symptoms is characteristic of neuroacanthocytosis.1-3Here, we present a video clip of a 40-year-old woman with typical eating dystonia. When she puts bolus in the mouth; dystonic movement of the tongue pushes it out (Video 1).She had progressive choreiform movements especially orofacial dyskinesias since 10 years. Her brain MRI showed caudate atrophy and T2 and fluid-attenuated inversion recovery hyperintensity of caudate and putamens. On the peripheral blood smear, there were many acanthocytes.Feeding dystonia is highly suggestive of neuroacanthocytosis and is a hallmark for this rare disease.3

Neurolaw, as an interdisciplinary field which links the brain to law, facilitates the pathway to better understanding of human behavior in order to regulate it accurately through incorporating neuroscience achievements in legal studies. Since 1990’s, this emerging field, by study on human nervous system as a new dimension of legal phenomena, leads to a more precise explanation for human behavior to revise legal rules and decision-makings. This paper strives to bring about significantly a brief introduction to neurolaw so as to take effective steps toward exploring and expanding the scope of law and more thorough understanding of legal issues in the field at hand.