Publications by authors named "Behnam Safarpour Lima"

16 Publications

  • Page 1 of 1

Neurological manifestations as the predictors of severity and mortality in hospitalized individuals with COVID-19: a multicenter prospective clinical study.

BMC Neurol 2021 Mar 16;21(1):116. Epub 2021 Mar 16.

Department of Neurology, Skull Base Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Backgrounds: The reports of neurological symptoms are increasing in cases with coronavirus disease 2019 (COVID-19). This multi-center prospective study was conducted to determine the incidence of neurological manifestations in hospitalized cases with COVID-19 and assess these symptoms as the predictors of severity and death.

Methods: Hospitalized males and females with COVID-19 who aged over 18 years were included in the study. They were examined by two neurologists at the time of admission. All survived cases were followed for 8 weeks after discharge and 16 weeks if their symptoms had no improvements.

Results: We included 873 participants. Of eligible cases, 122 individuals (13.97%) died during hospitalization. The most common non-neurological manifestations were fever (81.1%), cough (76.1%), fatigue (36.1%), and shortness of breath (27.6%). Aging, male gender, co-morbidity, smoking, hemoptysis, chest tightness, and shortness of breath were associated with increased odds of severe cases and/or mortality. There were 561 (64.3%) cases with smell and taste dysfunctions (hyposmia: 58.6%; anosmia: 41.4%; dysguesia: 100%). They were more common among females (69.7%) and non-smokers (66.7%). Hyposmia/anosmia and dysgeusia were found to be associated with reduced odds of severe cases and mortality. Myalgia (24.8%), headaches (12.6%), and dizziness (11.9%) were other common neurological symptoms. Headaches had negative correlation with severity and death due to COVID-19 but myalgia and dizziness were not associated. The cerebrovascular events (n = 10) and status epilepticus (n = 1) were other neurological findings. The partial or full recovery of smell and taste dysfunctions was found in 95.2% after 8 weeks and 97.3% after 16 weeks. The parosmia (30.9%) and phantosmia (9.0%) were also reported during 8 weeks of follow-up. Five cases with mild headaches and 5 cases with myalgia were reported after 16 weeks of discharge. The demyelinating myelitis (n = 1) and Guillain-Barré syndrome (n = 1) were also found during follow-up.

Conclusion: Neurological symptoms were found to be prevalent among individuals with COVID-19 disease and should not be under-estimated during the current pandemic outbreak.
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http://dx.doi.org/10.1186/s12883-021-02152-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960879PMC
March 2021

Neurological features and outcome in COVID-19: dementia can predict severe disease.

J Neurovirol 2021 02 8;27(1):86-93. Epub 2021 Jan 8.

Department of Neurology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

The COVID-19 pandemic has infected more than 22 million people worldwide. Although much has been learned about COVID-19, we do not know much about its neurological features and their outcome. This observational study was conducted on the patients of Imam Hossein Hospital, and 361 adult patients (214 males) with confirmed diagnosis of COVID-19 from March 5, 2020 to April 3, 2020, were enrolled. Data was gathered on age, sex, comorbidities, initial symptoms, symptoms during the disease course, neurological symptoms, and outcome. The mean age of the patients was 61.90 ± 16.76 years. The most common initial symptoms were cough, fever, and dyspnea. In 21 patients (5.8%), the initial symptom was neurological. History of dementia was associated with severe COVID-19 disease (odds ratio = 1.28). During the course of the disease, 186 patients (51.52%) had at least one neurological symptom, the most common being headache (109 [30.2%]), followed by anosmia/ageusia (69, [19.1%]), and dizziness (54, [15%]). Also, 31 patients had neurological complications (8.58%). Anosmia, ageusia, dizziness, and headache were associated with favorable outcome (P < 0.001), while altered mental status and hemiparesis were associated with poor outcome. The mortality rate of patients who had neurological complications was more than twice than that of patients without neurological complication (P = 0.008). Almost half of the patients experienced at least one neurological symptom, which may be the initial presentation of COVID-19. Dementia appears to be associated with severe COVID-19. Mortality was higher in patients with neurological complications, and these patients needed more intensive care.
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http://dx.doi.org/10.1007/s13365-020-00918-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792552PMC
February 2021

Gastrointestinal Bleeding Associated With Warfarin and Rivaroxaban Therapy in Atrial Fibrillation Cases with Concomitant Coagulopathy.

Cardiovasc Hematol Disord Drug Targets 2020 Dec 31. Epub 2020 Dec 31.

Department of Internal Medicine, Shahid Beheshti University of Medical Sciences, Tehran,. Iran.

Background: There is inadequate information on the risk of gastrointestinal (GI) bleeding in patients who are un-der rivaroxaban and warfarin therapy in Iran. Determining the risk of GI bleeding in patients receiving these two drugs can help to select a more appropriate anti-coagulation prophylaxis in high-risk patients.

Objective: The aim of this study was to compare the incidence of GI bleeding in patients with atrial fibrillation (AF) and concomitant bleeding risk factors receiving either warfarin or rivaroxaban.

Methods: In this observational study, 200 patients with AF and bleeding risk factors who referred to Imam Hossein Hospital (Tehran, Iran) were included. The patients were under treatment with either warfarin or rivaroxaban. The incidence of GI bleeding was compared between the two groups monthly for one year.

Results: GI bleedings were observed in 61% and 34% of patients treated with warfarin and rivaroxaban, respectively (P = 0.001). Melena was the most common type of GI bleeding in both groups. History of hypertension, history of stroke, con-sumption of anti-platelet drugs, NSAID consumption, and history of alcohol consumption were associated with more fre-quent GI bleeding only in warfarin group.

Conclusion: The incidence of GI bleeding was lower in AF patients who received rivaroxaban compared to those treated with warfarin. Also, GI bleeding risk does not change according to the consumption of other anti-coagulant drugs and un-derlying history of hypertension or stroke in patients received rivaroxaban. Therefore, rivaroxaban is suggested as the choice of prophylaxis in patients with AF and concomitant coagulopathy.
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http://dx.doi.org/10.2174/1871529X20999201231210044DOI Listing
December 2020

Ethical considerations in neurology during the COVID-19 pandemic.

Neurol Sci 2021 Feb 2;42(2):437-444. Epub 2021 Jan 2.

Department of Neurology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Coronavirus disease 2019 (COVID-19) pandemic has struck many countries and caused a great number of infected cases and death. Healthcare system across all countries is dealing with the increasing medical, social, and legal issues caused by the COVID-19 pandemic, and the standards of care are being altered. Admittedly, neurology units have been influenced greatly since the first days, as aggressive policies adopted by many hospitals caused eventual shut down of numerous neurologic wards. Considering these drastic alterations, traditional ethical principles have to be integrated with state-of-the-art ethical considerations. This review will consider different ethical aspects of care in neurologic patients during COVID-19 and how this challenging situation has affected standards of care in these patients.
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http://dx.doi.org/10.1007/s10072-020-05032-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7778482PMC
February 2021

Prevalence of sleep disorders in patients with epilepsy: A questionnaire-based cross-sectional study.

Epilepsy Behav 2021 Jan 9;114(Pt A):107635. Epub 2020 Dec 9.

Department of Neurology, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Sleep disturbance is a frequent finding in patients with epilepsy. As evaluation of sleep disorders and quality of sleep in patients with epilepsy may provide better management of these patients, we aimed to assess the prevalence of common sleep disorders in patients with epilepsy.

Methods: Patients with epilepsy referred to an outpatient epilepsy clinic in Tehran during one year were included. Validated Persian questionnaires were used by an interviewer to assess Excessive daytime sleepiness (EDS), Restless leg syndrome (RLS), and insomnia. Also, patients' demographic features and clinical seizure-related characteristics were recorded.

Results: Seventy patients (35 males) aged between 18 and 75 were enrolled. Among patients, 61.4, 35.7, and 28.6% suffered from insomnia, EDS, and RLS, respectively (mild to severe). When considering seizure characteristics, there was no significant correlation between either seizure frequency or its type and the prevalence of sleep disturbance (although sleep disturbance was more common among patients with higher seizure frequency and patients with generalized seizure). Interestingly, age had a positive correlation with EDS.

Conclusion: This study showed that sleep disturbance is a common finding in patients with epilepsy, which may become severe in some cases. Taking this into consideration, we suggest that routine evaluation of sleep disorders may help physicians to boost patients' sleep quality.
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http://dx.doi.org/10.1016/j.yebeh.2020.107635DOI Listing
January 2021

The Effect of Intradermal Botulinum Toxin a injections on painful diabetic polyneuropathy.

Diabetes Metab Syndr 2020 Nov-Dec;14(6):1823-1828. Epub 2020 Sep 14.

Department of Neurology, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

Background And Aims: Botulinum toxin type A (BTX-A) have been recently administered to improve Diabetic neuropathies; however, the efficacy of this treatment for relieving pain in painful diabetic polyneuropathy (DPN) has not been studied yet. Herein, we investigated the efficacy of botulinum toxin A (BTX-A) on DPN.

Methods: This prospective, randomized, double-blind, controlled trial was performed in Imam Hossein Medical Center, pain clinic (Tehran, Iran). Diabetic patients (141 cases), between 40 and 70 years old with polyneuropathy in lower limbs were randomly assigned to one of these three groups: 1. Group D1 received 150 units of BTX-A in one foot and normal saline 0.9% in the other foot, 2. Group D2 received BTX-A 150 units in both feet, 3. Group N received normal saline 0.9% in both feet. All injections were performed intradermally using insulin syringes in 20 different points of foot. Visual analogue scale (VAS) and neuropathy pain scale (NPS) were used to compare the groups.

Results: The improvement of VAS, pain intensity, sharp and hot sensation, sensitive and unpleasant sensation, deep and surface sensation was significant when comparing BTX-A and placebo groups. However, dull and cold sensations improvement (p = 0.114, and p = 0.653; respectively) did not show a significant difference between BTX-A injection and placebo groups. Furthermore, the percentage of changes after treatment indicated that sharp pain was improved more than other complaints (80%, 81%, and 37% for D1, D2, and N groups; respectively).

Conclusion: Intradermal administration of BTX-A was effective in improving VAS and all of the items of NPS in patients with diabetic polyneuropathy, except for dull and cold sensation.
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http://dx.doi.org/10.1016/j.dsx.2020.09.019DOI Listing
September 2020

RAR-related orphan receptor A: One gene with multiple functions related to migraine.

CNS Neurosci Ther 2020 12 5;26(12):1315-1321. Epub 2020 Sep 5.

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Aims: RAR-related orphan receptor (RORA) involves in regulation of several biological processes including inflammation and circadian rhythm that probably are involved in migraine pathophysiology. In the current study, the association between RORA rs11639084 and rs4774388 variants and susceptibility to migraine were investigated in a sample of Iranian migraine patients for the first time.

Methods: In a case-control study including 400 participants, 200 migraineurs and 200 healthy controls, genotyping of RORA rs4774388 and rs11639084 polymorphisms was performed using tetra-primer amplification refractory mutation system-polymerase chain reaction (TP-ARMS-PCR).

Results: The distribution of rs4774388 C/T and T/T genotypes differed significantly between the studied groups. Moreover, an association was observed between rs4774388 and migraine under the recessive mode of inheritance (P = 0.002; OR = 1.89.; CI = 1.25-2.87). The distribution of rs11639084 alleles and genotypes was not significantly different between migraineurs and healthy controls.

Conclusion: Current results suggest RORA, as a molecular link, may explain inflammation and circadian rhythm dysfunction in migraine. Further studies in different ethnicities are required to confirm the function of RORA in migraine development.
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http://dx.doi.org/10.1111/cns.13453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7702232PMC
December 2020

Pivotal cytokines and their transcription factors are the targets of guluronic acid (G2013) for inhibiting the immunopathogenesis process of multiple sclerosis.

Drug Dev Res 2020 06 26;81(4):511-516. Epub 2020 Feb 26.

Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.

The α-L-guluronic acid (G2013), is a novel immunosuppressive drug (PCT/EP2017/067920). One of the most popular ideas in designing drugs for multiple sclerosis (MS) is to restrict the main inflammation-related lymphocytes and cytokines. The foremost problems with conventional drugs are their side effects and low efficacy. In order to rectify these problems, we examined the effect of two doses of G2013 on the gene expression of IFN-γ, IL-17, IL-22, T-bet, RORC, and AHR, in MS patients PBMCs. RNA was extracted from peripheral blood mononuclear cell (PBMC) of 12 relapsing-remitting MS patients and 12 healthy volunteers and the effect of two doses of G2013 on the gene expression of IFN-γ, IL-17, IL-22, T-bet, RORC, and AHR, were assessed by real-time PCR. Overall, the results show that G2013 is able to significantly reduce the gene expression of IL-22, AHR, RORC, and T-bet. Collectively, G2013 might be considered and studied as a new drug of possible use to MS patients due to its immunosuppressive property on some of the main inflammatory cytokine and transcription factors.
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http://dx.doi.org/10.1002/ddr.21645DOI Listing
June 2020

Functional improvement and immune-inflammatory cytokines profile of ischaemic stroke patients after treatment with boswellic acids: a randomized, double-blind, placebo-controlled, pilot trial.

Inflammopharmacology 2019 Dec 12;27(6):1101-1112. Epub 2019 Aug 12.

HealthWeX Clinical Research Ltd. Co., Tehran, Iran.

Ischaemic stroke represents one of the main causes of disability. According to the broad investigations, it is widely assumed that the contribution of inflammatory mediators is strongly involved in its pathogenesis. Hence, it seems that stroke treatment needs more efficient and inflammatory-targeted compounds to modulate inflammatory-related pathways. Such strategies paved the way to achieve better clinical outcomes along with conventional therapies. Boswellic acids (BAs), the main bioactive compounds of Boswellia sp. resin; are triterpenoids with well-documented anti-inflammatory properties. Compared with NSAIDs, BAs cross blood-brain barrier yet they do not cause serious gastrointestinal adverse effects. Considering BAs anti-inflammatory features, we conducted a randomized double-blind placebo-controlled pilot trial of these compounds as a supplementary therapy. This trial randomized 80 ischaemic stroke patients (40-80-years old) with a 4-20 score according to the National Institutes of Health Stroke Scale (NIHSS), within 72 h of neurological sign onset, in 1-month follow-up period. We assessed NIHSS as primary and plasma levels of TNF-α, IL-1α, IL-1β, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12p70, IFN-γ, IP-10, MCP-1, 8-isoprostane, and PGE2 as secondary outcomes. According to NIHSS evaluation, patients who were allocated to BA group had a significant recovery in neurological function during the 1-month follow-up, compared with the placebo. The levels of plasma inflammatory markers were significantly decreased in BA group after 7 days of intervention in TNF-α, IL-1β, IL-6, IL-8, and PGE2. As a preliminary controlled trial in ischaemic stroke, BAs could improve clinical outcome in the early phases of stroke along with promising changes in plasma inflammatory factors.Clinical trial registrationhttps://www.irct.ir Unique identifier: IRCT20170315033086N5. IRCT is a primary registry in the WHO registry network (https://www.who.int/ictrp/network/primary/en/).
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http://dx.doi.org/10.1007/s10787-019-00627-zDOI Listing
December 2019

Frequency of dyslipidemia in migraineurs in comparison to control group.

J Family Med Prim Care 2019 Mar;8(3):950-954

Department of Neurology, Imam Hossein Medical and Educational Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Migraine is a common disease with neurovascular nature, which is commonly prevalent in the general population. Due to the significant prevalence of migraine and its long-term complications, it is necessary to pay attention to its exacerbating factors. Therefore, the aim of this study was to evaluate the frequency distribution of dyslipidemia in patients with migraine compared with control group.

Materials And Methods: This is a case-control study, in which 50 patients with migraine (with aura and without aura) were confirmed by the criteria of International Headache Society. Migraineurs and control group ( = 50) were selected from among patients who referred to the Neurology Clinic of Imam Hossein Hospital. The levels of total cholesterol, triglyceride, low-density lipoprotein (LDL), and high-density lipoprotein (HDL) cholesterol were measured in both the groups. SPSS software (version 21) was used to analyze the data.

Results: The findings showed that among migraineurs, 21 patients (42%) revealed high levels of cholesterol and 22 revealed high levels of LDL (44%); whereas among subjects without migraine, 12 subjects (24%) exhibited high levels of cholesterol and 12 (24%) high levels of LDL, where a significant correlation between the two groups was achieved.

Conclusion: The present results showed that migraine is associated with higher level of cholesterol and LDL when compared with the control group, where a significant relationship was found.
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http://dx.doi.org/10.4103/jfmpc.jfmpc_9_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482739PMC
March 2019

The effectiveness of gabapentin and exercises in the treatment of carpal tunnel syndrome: a randomized clinical trial.

J Exerc Rehabil 2018 Dec 27;14(6):1067-1073. Epub 2018 Dec 27.

Department of Sports Medicine, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Carpal tunnel syndrome (CTS) is one of the reasons for labor abandonment due to inability and pain. The aim of this study was to evaluate the effectiveness of gabapentin and exercise training in the treatment of CTS and compare their effects. This single-blind clinical trial was conducted on patients referred to the Imam Hossein hospital's electrodiagnostic (EDX) unit. The patients randomly assigned into four groups: using nocturnal splint as an approved treatment in the control group; taking 300-mg gabapentin per night and using nocturnal splint; nerve and tendon gliding exercises and using nocturnal splint; and taking 300-mg gabapentin per night, performing same exercise as group 3 and using nocturnal splint. At baseline, four indicators were assessed in all patients, including the Boston carpal tunnel questionnaire, visual analogue scale (VAS), pinch and grip strength of the affected hand. One month after the beginning of intervention, participants were reassessed and compared for each of the four indicators. Using nocturnal splint along with exercise and gabapentin significantly improved VAS, pinch and grip strength in moderate CTS compared to control group that only used nocturnal splint. However in mild CTS, grip strength was not significantly higher compared to control group (=0.048). Results of this study showed that use of splint alone in mild CTS is an appropriate and sufficient treatment; however, in moderate CTS, receiving gabapentin along with exercise and splinting showed better treatment results compared to splinting alone.
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http://dx.doi.org/10.12965/jer.1836420.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323333PMC
December 2018

Hypoglycemia and cognitive function in diabetic patients.

Diabetes Metab Syndr 2018 Nov 22;12(6):893-896. Epub 2018 May 22.

Department of Internal Medicine, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Aims: Hypoglycemia can be considered the most common complication of Diabetes Mellitus treatment. So far, controversial studies have been carried out to examine the impacts of hypoglycemia on the cognitive function.

Methods: This study was conducted as case-control. The case group was 35 patients with Diabetes Mellitus Types I or II hospitalized in Imam Hussein Hospital, Tehran, Iran, who have experienced hypoglycemic attacks (glucose level below 70 mg/dl). The control group consisted of diabetic patients hospitalized in hospital, but they had no history of hypoglycemia. As the blood glucose level became in normal range and the patients' Mental status became stable, the brain cognitive function was examined using Mini-Mental State test.

Results: The mean age of the subjects in the case and control groups was 56.77, 53.73 years old, respectively. The mean cognitive score in the control and hypoglycemic groups was 29.09 and 25.29, respectively. The mean MMSE cognitive score was significantly diminished in the hypoglycemic group (p < 0.001).

Conclusions: This study indicated that incidence of hypoglycemia in diabetic patients is associated with cognitive disorders. Further, there is a linear association between cognitive disorders and hypoglycemia, age and diabetes mellitus complication.
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http://dx.doi.org/10.1016/j.dsx.2018.05.011DOI Listing
November 2018

Comparison of Pregabalin and Sodium Valproate in Migraine Prophylaxis: A Randomized Double-Blinded Study.

Iran J Pharm Res 2018 ;17(2):783-789

Department of Clinical Pharmacy, Faculty of Pharmacy, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Patients suffering from headache, particularly migraine type, are among the most dissatisfied patients. The aim of this study was comparing the efficacy of pregabalin with valproate sodium, in preventing migraine headache. In a randomized, double-blinded study, adult patients eligible for prophylactic treatment (, patients with 4-15 attacks per month in last two months) were recruited. Patients' demographic data, duration of symptoms, headache frequency (attacks per month) and intensity (based on visual analogue scale) and also drugs used to relief headache were recorded. The patients were randomly assigned to two groups; valproate sodium (200 mg two times daily) and pregabalin (50 mg two times daily). The patients were examined by neurology specialist monthly for three months and the related data were recorded. The Data were analyzed using SPSS version 21, with related statistical tests. Total number of 140 patients with recurrent migraine were entered into the study. Sixty-nine patients were assigned to group A and 71 to group B by the randomizing table. Inter-group analysis of data in two arms of the study showed that two medications were equally effective except that pregabalin was not significantly effective in reducing number of attacks during first month of therapy compared to baseline. This differences were not significant at second and third month of the study. Our study showed that pregabalin, has comparable efficacy with valproate sodium in reducing migraine frequency, intensity, and duration of attacks and could be an alternative for migraine prophylaxis.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985194PMC
January 2018

The rs4846049 polymorphism in the 3'UTR region of the gene increases the migraine susceptibility in an Iranian population.

J Pain Res 2018 5;11:145-149. Epub 2018 Jan 5.

Department of Medical Genetics.

Introduction: Migraine is a painful complex neurovascular disease characterized by recurrent moderate-to-severe headaches. Increased level of homocysteine is related to dilation of cerebral vessels and endothelial injury that could trigger migraine attacks. Functional polymorphisms in the MTHFR gene affect homocysteine metabolism and, therefore, play an important role in the etiology of the disease.

Objectives: We aimed to investigate the possible association between MTHFR gene rs4846049, C677T, and A1298C polymorphisms and the risk of migraine in Iranian population.

Methods: In this genetic association study, 498 individuals were enrolled, including 223 migraine patients and 275 healthy controls. Genotyping was performed using tetra-primer ARMS-PCR for rs4846049 and PCR-restriction fragment length polymorphism for C677T and A1298C polymorphisms.

Results: The association between rs4846049 and C677T polymorphisms and migraine was observed. For the rs4846049 polymorphism, the association was detected under a dominant model (=0.007; odds ratio [OR] =0.60; 95% confidence interval [CI], 0.41-0.87), and for the C677T polymorphism, the TT genotype frequency was significantly different in the studied groups (=0.009; OR =2.48; 95% CI, 1.25-4.92). No significant differences in the genotype or allele frequencies were found for the A1298C polymorphism between the migraineurs and controls.

Conclusion: Present data provide evidence for the association of rs4846049 and C677T polymorphisms in the MTHFR gene and migraine. Further studies are required to validate the significance of the studied genetic variations in diverse ethnic populations.
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http://dx.doi.org/10.2147/JPR.S152930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759854PMC
January 2018

RIT2 Polymorphisms: Is There a Differential Association?

Mol Neurobiol 2017 04 3;54(3):2234-2240. Epub 2016 Mar 3.

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells. Single-nucleotide polymorphisms (SNPs) have been extensively studied in neurological disorders, and in a number of instances have been reproducibly linked to disease as risk factors. The RIT2 gene has been recently shown to be associated with a number of neurological disorders, such as Parkinson's disease (PD) and autism. In the study reported here, we investigated the association of the rs12456492 and rs16976358 SNPs of the RIT2 gene with PD, essential tremor (ET), autism, schizophrenia (SCZ), and bipolar disorder (BPD; total of 2290 patients), and 1000 controls, by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD. Our findings are indicative of differential association between the RIT2 SNPs and different neurological disorders.
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http://dx.doi.org/10.1007/s12035-016-9815-4DOI Listing
April 2017

c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

Eur J Med Genet 2016 Feb 7;59(2):65-9. Epub 2016 Jan 7.

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals.
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http://dx.doi.org/10.1016/j.ejmg.2016.01.001DOI Listing
February 2016