Publications by authors named "Siamak Abdi"

17 Publications

  • Page 1 of 1

BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.

Neurobiol Aging 2021 Mar 5;99:102.e1-102.e10. Epub 2020 Oct 5.

School of Biology, College of Science, University of Tehran, Tehran, Iran. Electronic address:

Brown-Vialetto-Van Laere (BVVL) and Fazio-Londe are disorders with amyotrophic lateral sclerosis-like features, usually with recessive inheritance. We aimed to identify causative mutations in 10 probands. Neurological examinations, genetic analysis, audiometry, magnetic resonance imaging, biochemical and immunological testings, and/or muscle histopathology were performed. Mutations in known causative gene SLC52A3 were found in 7 probands. More importantly, only 1 mutated allele was observed in several patients, and variable expressivity and incomplete penetrance were clearly noted. Environmental insults may contribute to variable presentations. Putative causative mutations in other genes were identified in 3 probands. Two of the genes, WDFY4 and TNFSF13B, have immune-related functions. Inflammatory responses were implicated in the patient with the WDFY4 mutation. Malfunction of the immune system and mitochondrial anomalies were shown in the patient with the TNFSF13B mutation. Prevalence of heterozygous SLC52A3 BVVL causative mutations and notable variability in expressivity of homozygous and heterozygous genotypes are being reported for the first time. Identification of WDFY4 and TNFSF13B as candidate causative genes supports conjectures on involvement of the immune system in BVVL and amyotrophic lateral sclerosis.
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http://dx.doi.org/10.1016/j.neurobiolaging.2020.09.021DOI Listing
March 2021

Endocrine Abnormalities in a Case of Neurodegeneration with Brain Iron Accumulation.

Mov Disord Clin Pract 2020 Aug 24;7(6):706-707. Epub 2020 Jun 24.

Department of Neurology Hazrat Rasool Hospital, Iran University of Medical Sciences Tehran Iran.

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http://dx.doi.org/10.1002/mdc3.12990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396833PMC
August 2020

The association of SARS-CoV-2 infection and acute disseminated encephalomyelitis without prominent clinical pulmonary symptoms.

J Neurol Sci 2020 09 18;416:117001. Epub 2020 Jun 18.

Associate Professor of Neurology, Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran (ORCID ID: 0000-0002-6774-7825). Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.117001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7301801PMC
September 2020

Sex Differences in 28-Day Mortality of Ischemic Stroke in Iran and Its Associated Factors: A Prospective Cohort Study.

J Stroke Cerebrovasc Dis 2020 Aug 13;29(8):104896. Epub 2020 May 13.

Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Introduction: The mortality and morbidity rates of stroke in men and women have been reported differently and its effective factors have been discussed. The purpose of this study was to investigate sex differences in 28-day mortality of ischemic stroke and its associated factors.

Materials And Methods: This is a prospective cohort study conducted from June 2018 to September 2019 in patients with ischemic stroke referred to Firoozgar, Shariati and Sina hospitals in Tehran. Demographic data, risk factors, disease history, drug use, severity of stroke, and patient functional status were recorded in the hospital. The patients' functional status and severity of stroke were measured using the Modified Ranking Scale (MRS) and the National Institutes of Health Stroke Scale (NIHSS). After 28 days, the patients' survival status was monitored. Logistic regression was used to analyze the data.

Results: In this study, 703 patients were enrolled; of them, 260 (37.00%) were female and 443 (63.00%) were male. After 28 days, 21 female cases (8.17%) and 26 male (6.08%) ones died (P = 0.299). Functional status (OR = 4.65; 95%CI: 2.09 to 10.38), diastolic blood pressure (OR = 0.91; 95%CI: 0.85 to 0.96), warfarin use (OR = 0.15; 95%CI: 0.04 to 0.55), and hemoglobin (OR = 1.17; 95%CI: 1.02 to 1.35) were associated with 28-day mortality. Poor functional status in men had a greater association with 28-day mortality than women (OR 4.65 vs. 1.64). High diastolic blood pressure had a negative association with the 28-day mortality of cases and this association is more in women than in men (OR 0.88 vs. 0.91). High hemoglobin is a risk factor in men and a protective factor in 28-day mortality in women (OR 1.73 vs. 0.73). Smoking also had a greater association with 28-day mortality in women than men (OR 2.67 vs. 1.2).

Discussion: Twenty eight-day mortality was more in women than in men, but this difference was not significant. Women were older, had more severe stroke and poorer functional status than men. Variables including functional status, diastolic blood pressure, hemoglobin level, and smoking had interaction with sex, and their association with 28-day mortality rate was different between men and women. Sex differences should be considered, so that we can better manage stroke patients.
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2020.104896DOI Listing
August 2020

Posterior reversible encephalopathy syndrome with spinal cord involvement as the first presentation of lupus nephritis.

Iran J Neurol 2019 Oct;18(4):179-180

Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036048PMC
October 2019

The use of brain stimulation in the rehabilitation of walking disability in patients with multiple sclerosis: A randomized double-blind clinical trial study.

Iran J Neurol 2019 Apr;18(2):57-63

Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Transcranial direct current stimulation (tDCS) of the primary motor cortex of the lower limb has been exploited in the treatment of patients with stroke and spastic lower limb paresis. We examined this stimulation efficacy in the treatment of multiple sclerosis (MS)-related walking disability. In a single-center randomized double-blind clinical trial study, 13 patients with MS and walking disability and Expanded Disability Status Scale (EDSS) score of 3 to 6 were randomized to the real and sham stimulation groups. In the real tDCS stimulation, 7 patients received anodal 2.5 mA stimulation at 1 cm anterior to the C point for 30-minute daily sessions in 7 consecutive days. The other group received sham stimulation with the same protocol. The primary outcome of the trial was change in the Timed 25-Foot Walk (T25-FW) from before to after the stimulation. We also assessed the Multiple Sclerosis Walking Scale-12 (MSWS-12). We employed linear mixed effects model to examine the efficacy of tDCS stimulation on changing the outcomes. On average, patients who received real tDCS stimulation walked faster after 7 sessions of stimulation [Estimate = -2.7, standard error (SE) = 1.3, P = 0.049], while walking speed of sham stimulation recipients did not change. For every session of stimulation, recipients of real tDCS stimulation spent 2.7 seconds less for walking the 25 feet. Real tDCS stimulation was not effective in improving MSWS-12 scores. tDCS stimulation of the lower limb motor cortex speeded up patients with MS in walking, but without improvement in patients' mobility in daily activities.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755509PMC
April 2019

Pyridostigmine-Induced Bradycardia in Patient With MuSK-Ab-Positive Myasthenia Gravis and Alopecia Universalis.

J Clin Neuromuscul Dis 2017 09;19(1):49-50

*Department of Neurology, Golestan Hospital, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IR Iran †Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, IR Iran.

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http://dx.doi.org/10.1097/CND.0000000000000162DOI Listing
September 2017

Elevated troponin T after acute ischemic stroke: Association with severity and location of infarction.

Iran J Neurol 2015 Jan;14(1):35-40

Department of Neurology, School of Medicine, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: 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.

Methods: 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).

Results: 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.

Conclusion: 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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395805PMC
January 2015

Demyelination syndrome due to rapid correction of desmopressin-associated hyponatremia in a known case of central diabetes insipidus: a case report.

Acta Neurol Belg 2015 Dec 17;115(4):819-21. Epub 2015 Mar 17.

Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Jalal-e-Al-e-Ahmad Hwy, Tehran, Islamic Republic of Iran.

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http://dx.doi.org/10.1007/s13760-015-0450-zDOI Listing
December 2015

What is Susac syndrome? - A brief review of articles.

Iran J Neurol 2014 Oct;13(4):209-14

Department of Neurology, School of Medicine, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Susac's syndrome (SS) is a clinical triad of encephalopathy, branch retinal artery occlusion and sensorineural hearing loss and maybe due to an immune-mediated endotheliopathy. Because of its rarity and some similarities to other common neurological conditions such as multiple sclerosis and acute disseminated encephalomyelitis, it is often misdiagnosed and therefore mistreated. To the best of our knowledge, there is only one case report from our country with this diagnosis. Here, we have a short discussion on this issue to introduce it to our colleagues and remind it as a differential diagnosis in patients with unexplained encephalopathy.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4300795PMC
October 2014

Spinal cord infarction as a complication of hemodialysis.

Spine J 2015 Apr 25;15(4):788. Epub 2014 Nov 25.

Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Keshavarz Blvd., Qods Street, Tehran, Tehran Province 1417863181, Iran.

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http://dx.doi.org/10.1016/j.spinee.2014.11.010DOI Listing
April 2015

A teacher with progressive headache, dyslexia, dysgraphia and seizure.

Iran J Neurol 2013 ;12(4):180-1

Resident, Department of Neurology, School of Medicine AND Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829306PMC
November 2013

Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients.

Neurosci Lett 2013 Sep 21;551:75-8. Epub 2013 Jul 21.

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

Parkinson's disease (PD) is the second most common neurodegenerative disorder, after Alzheimer's disease. Genomic rearrangements are common mutations reported in PD patients. In this study, we investigated the prevalence of genomic rearrangements in a total of 232 Iranian PD patients, out of which 102 were sporadic early-onset (age-at-onset ≤ 45 years) and 51 had a family history. We used multiplex ligation-dependent probe amplification (MLPA) method to detect exon dosage changes. Two new improved probe kits, SALSA P051 and P052, were used and altogether α-synuclein, parkin, UCHL1, PINK1, DJ-1, LRRK2, GCH1, ATP13A2, CAV1, CAV2, LPA and TNFRSF9 genes were analyzed. Exon or whole-gene rearrangements were identified in 14 (13.7%) sporadic early-onset PD patients in parkin, α-synuclein and PINK1. Of familial PD patients 46 cases from 18 families (35.3%) showed exon or whole-gene rearrangements in parkin, α-synuclein, PINK1, DJ-1, and ATP13A2 genes. All changes were verified by quantitative PCR (qPCR). Novel mutations and unusual clinical features are reported in this study. Mutations in parkin were the predominant genetic cause in both early-onset and familial PD groups. Also the mutations observed in family PD group are more in number and diversity than the sporadic early-onset PD group.
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http://dx.doi.org/10.1016/j.neulet.2013.07.013DOI Listing
September 2013

A computerized expert system for diagnosing primary headache based on International Classification of Headache Disorder (ICHD-II).

Springerplus 2013 Dec 30;2(1):199. Epub 2013 Apr 30.

1- Neurology ward, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran ; Neurology Department, AJA University of Medical Sciences, Tehran, Iran.

Background: The authors developed a computerized program designed to diagnose primary headache based on international classification of headache disorders, 2nd edition (ICHD-II) criteria for use by physicians.

Methods: An appropriate questionnaire was designed according to the ICHD-II criteria for all types of primary headaches and the computerized system provided diagnosis based on the criteria. The software was tested by analyzing 80 patients, recruited from an outpatient headache clinic, affected by primary headache. Each patient with a unique card number was interviewed up to 15 minutes. At the end of each day, software and neurologist diagnoses were evaluated for each patient.

Results: Of 80 patients, the software was able to come up with correct results in 78 cases. The age of the patients ranged from 30 to 80 years old. Migraine headache accounted for 71 cases, five patients had tension type headache, and 2 had cluster headaches; all were correctly diagnosed by software. Two cases were not concordant with the neurologist's diagnosis. The neurologist diagnosed these two cases as "Medical overuse syndrome headache" and "cluster headache", which our software was not able to diagnosis them.

Conclusions: This software permitted the diagnosis of more than 97% of the patients similar to the physician's. We hope this questionnaire and applying the software to diagnose headache based on ICHD could be of help to better the diagnosis of headaches.
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http://dx.doi.org/10.1186/2193-1801-2-199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3661080PMC
December 2013

Biased homozygous haplotypes across the human caveolin 1 upstream purine complex in Parkinson's disease.

J Mol Neurosci 2013 Oct 4;51(2):389-93. Epub 2013 May 4.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran,

The alpha-synuclein-caveolin 1 axis is suggested to be of role in the pathogenesis of Parkinson's disease in cell line models. The objective of this study was to analyze the homozygous haplotype compartment of the human caveolin 1 gene upstream purine complex in patients afflicted with Parkinson's disease. This complex was screened in patients with Parkinson's disease (n = 141) and compared with a group of controls (n = 760) using polymerase chain reaction and sequencing. The expression activity of the homozygous haplotypes was then examined using luciferase Dual-Glo system in human neuronal cell line, LAN-5. Six haplotypes were found to be homozygous in the patients, and not in the control pool (Fisher exact p < 1 × 10(-6)). Three of those haplotypes were specific to Parkinson's disease (Fisher exact p < 0.002), and the remaining three overlapped with homozygous haplotypes in Alzheimer's disease and multiple sclerosis (Fisher exact p < 0.002). The disease haplotypes contained motif lengths that were nonexistent in the control homozygous haplotype pool and significantly increased gene expression (p < 9 × 10(-6)). We conclude that skew in the caveolin 1 purine complex homozygous haplotype compartment and an additive effect of those haplotypes may be linked with Parkinson's disease.
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http://dx.doi.org/10.1007/s12031-013-0021-9DOI Listing
October 2013

Diagnostic accuracy of ultrasound in determining the cause of bilious vomiting in neonates.

Iran J Radiol 2012 Nov 20;9(4):190-4. Epub 2012 Nov 20.

Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Medical Imaging Center, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran ; Department of Radiology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: Plain radiography and contrast radiologic studies are traditionally the main options in evaluating neonates presenting with bilious vomiting. While ultrasonography (US) is more available, its diagnostic accuracy is in question.

Objectives: The purpose of this study is to determine the diagnostic accuracy of US in evaluating these patients with bilious vomiting.

Patients And Methods: All neonates with bilious vomiting or bilious nasogastric tube drainage presented to a children's hospital in a 1.5-year period were included. US were performed in all patients. The results were compared with clinical and radiological data and the final diagnosis. We used chi-square and Fisher's exact tests for analysis.

Results: The cause of bilious vomiting for 18 of the 23 included patients was surgical. All patients labeled as surgical candidates by US ended in surgery [positive predictive value (PPV) = 100%], while only 50% of the patients with inconclusive US were operated [negative predictive value (NPV) = 50%, Confidence Interval (CI) 95%: 29%-71%]. The sensitivity and specificity of US in diagnosing intestinal atresia (n = 9) was 89% [CI 95%: (68% - 100%)] and 100%. In cases with malrotation (n = 4) and midgut volvulus (n = 2), sonographic diagnosis was in concordance with final surgical diagnosis.

Conclusion: This study suggested that in cases in which US makes a certain diagnosis, its accuracy eliminates the need for further diagnostic tests, but if it is inconclusive, further radiological contrast studies should be tried to make the final diagnosis.
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http://dx.doi.org/10.5812/iranjradiol.8465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569550PMC
November 2012

Chronic meningitis as the first presentation of sarcoidosis: an uncommon finding.

Iran J Neurol 2011 ;10(1-2):29-31

Neurology Department, Shariati Hospital, Tehran University of Medical Sceinces, Tehran, Iran.

We describe a 40-year-old woman presenting with headache, nausea, episodic amnesia and blurred optic disc. Brain MRI disclosed diffuse leptomeningeal enhancement. CSF analysis showed aseptic meningitis with elevated ACE level. Neurosarcoidosis was diagnosed based on granulomatosis changes on tissue biopsy.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829216PMC
November 2013