Publications by authors named "Shahriar Nafissi"

112 Publications

Practical needs and considerations for refugees and other forcibly displaced persons with neurological disorders: Recommendations using a modified Delphi approach.

Gates Open Res 2021 25;5:178. Epub 2022 Mar 25.

Neurology, Massachusetts General Hospital, Boston, Massachusetts, 02114, USA.

There are >70 million forcibly displaced people worldwide, including refugees, internally displaced persons, and asylum seekers. While the health needs of forcibly displaced people have been characterized in the literature, more still needs to be done globally to translate this knowledge into effective policies and actions, particularly in neurology. In 2020, a global network of published experts on neurological disease and refugees was convened. Nine physician experts from nine countries (2 low, 1 lower-middle income, 5 upper-middle, 1 high income) with experience treating displaced people originating from 18 countries participated in three survey and two discussion rounds in accordance with the Delphi method. A consensus list of priority interventions for treating neurological conditions in displaced people was created, agnostic to cost considerations, with the ten highest ranking tests or treatments ranked as: computerized tomography scans, magnetic resonance imaging scans, levetiracetam, acetylsalicylic acid, carbamazepine, paracetamol, sodium valproate, basic blood tests, steroids and anti-tuberculous medication. The most important contextual considerations (100% consensus) were all economic and political, including the economic status of the displaced person's country of origin, the host country, and the stage in the asylum seeking process. The annual cost to purchase the ten priority neurological interventions for the entire displaced population was estimated to be 220 million USD for medications and 4.2 billion USD for imaging and tests. A need for neuroimaging and anti-seizure medications for forcibly displaced people was emphasized. These recommendations could guide future research and investment in neurological care for forcibly displaced people.
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http://dx.doi.org/10.12688/gatesopenres.13447.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8901583.2PMC
March 2022

Guillain-Barre Syndrome and COVID-19 Vaccine: A Report of Nine Patients.

Basic Clin Neurosci 2021 Sep-Oct;12(5):703-710. Epub 2021 Sep 1.

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

Introduction: Guillain-Barre Syndrome (GBS) is an autoimmune acute inflammatory demyelinating polyneuropathy usually elicited by an upper respiratory tract infection. Several studies reported GBS associated with Coronavirus Disease 2019 (COVID-19) infection. In this study, we described nine GBS patients following the COVID-19 vaccine.

Methods: In this study, nine patients were introduced from six referral centers for neuromuscular disorders in Iran between April 8 and June 20, 2021. Four patients received the Sputnik V, three patients received the Sinopharm, and two cases received the AstraZeneca vaccine. All patients were diagnosed with GBS evidenced by nerve conduction studies and/or cerebrospinal fluid analysis.

Results: The median age of the patients was 54.22 years (ranged 26-87 years), and seven patients were male. The patients were treated with Intravenous Immunoglobulin (IVIg) or Plasma Exchange (PLEX). All patients were discharged with some improvements.

Conclusion: The link between the COVID-19 vaccine and GBS is not well understood. Given the prevalence of GBS over the population, this association may be coincidental; therefore, more studies are needed to investigate a causal relationship.
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http://dx.doi.org/10.32598/bcn.2021.3565.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818119PMC
September 2021

Iranian Consensus Recommendations for Treatment of Myasthenia Gravis.

Arch Iran Med 2022 01 1;25(1):37-49. Epub 2022 Jan 1.

Neurology Department, Shariati Hospital, Iranian Neuromuscular Research Center (INMRC), Tehran University of Medical Sciences, Tehran, Iran.

Myasthenia gravis (MG) is an immune-mediated potentially treatable disease in which rapid diagnosis and proper treatment can control symptoms. Treatment should be individualized in each patient according to distribution (ocular or generalized) and severity of the weakness, antibody status, thymus pathology, patient comorbidities, and preferences. A group of Iranian neuromuscular specialists have written these recommendations to treat MG based on national conditions. Four of the authors performed an extensive literature review, including PubMed, EMBASE, and Google Scholar, from 1932 to 2020 before the central meeting to define headings and subheadings. The experts held a 2-day session where the primary drafts were discussed point by point. Primary algorithms for the management of MG patients were prepared in the panel discussion. After the panel, the discussions continued in virtual group discussions, and the prepared guideline was finalized after agreement and concordance between the panel members. Finally, a total of 71 expert recommendations were included. We attempted to develop a guideline based on Iran's local requirements. We hope that these guidelines help healthcare professionals in proper treatment and follow-up of patients with MG.
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http://dx.doi.org/10.34172/aim.2022.07DOI Listing
January 2022

The value of MUNIX as an objective electrophysiological biomarker of disease progression in chronic inflammatory demyelinating polyneuropathy.

Muscle Nerve 2022 04 31;65(4):433-439. Epub 2022 Jan 31.

Neurology Department, Iranian Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Introduction/aims: Objective outcome measures to monitor treatment response and guide treatment are lacking in chronic inflammatory demyelinating polyneuropathy (CIDP). In this study we aimed to evaluate the motor unit number index (MUNIX) as an outcome measurement in patients with CIDP and determine the correlation of MUNIX with functional and standard electrodiagnostic tests in a single follow-up study.

Methods: We evaluated MUNIX of the abductor pollicis brevis, abductor digiti minimi, and tibialis anterior (TA) muscles bilaterally. Muscle force was assessed by Medical Research Council Sum Score (MRCSS). Functional measures used were the Overall Neuropathy Limitation Score (ONLS) and the Rasch-built Overall Disability Scale (R-ODS) score at baseline and after 6 months of treatment. Standard electrophysiology was evaluated by the Nerve Conduction Study Score (NCSS).

Results: Twenty patients were included at baseline, and 16 completed the follow-up study. Significant correlations were found between the MUNIX sum score and both MRCSS and NCSS at baseline, between both the pinch strength and grip and upper limb MUNIX at baseline and follow-up, and between MUNIX of TA and both lower limb MRCSSs with lower limb ONLS at baseline and follow-up. Significant correlations also were found between MUNIX sum score change and MRCSS change, R-ODS change, and ONLS change.

Discussion: MUNIX changes correlated with strength and electrophysiological improvements in CIDP patients. This suggests that MUNIX may represent a useful objective biomarker for patient follow-up.
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http://dx.doi.org/10.1002/mus.27498DOI Listing
April 2022

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.

Front Neurol 2021 21;12:739931. Epub 2021 Sep 21.

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

Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing. This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities. A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members. Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.
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http://dx.doi.org/10.3389/fneur.2021.739931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490649PMC
September 2021

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Brain 2022 Apr;145(2):596-606

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Department of Medicine, Barcelona 08041, Spain.

Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. Delta-sarcoglycanopathy (LGMDR6) is the least frequent and is considered an ultra-rare disease. Our aim was to characterize the clinical and genetic spectrum of a large international cohort of LGMDR6 patients and to investigate whether or not genetic or protein expression data could predict a disease's severity. This is a retrospective study collecting demographic, genetic, clinical and histological data of patients with genetically confirmed LGMDR6 including protein expression data from muscle biopsies. We contacted 128 paediatric and adult neuromuscular units around the world that reviewed genetic data of patients with a clinical diagnosis of a neuromuscular disorder. We identified 30 patients with a confirmed diagnosis of LGMDR6 of which 23 patients were included in this study. Eighty-seven per cent of the patients had consanguineous parents. Ninety-one per cent of the patients were symptomatic at the time of the analysis. Proximal muscle weakness of the upper and lower limbs was the most common presenting symptom. Distal muscle weakness was observed early over the course of the disease in 56.5% of the patients. Cardiac involvement was reported in five patients (21.7%) and four patients (17.4%) required non-invasive ventilation. Sixty per cent of patients were wheelchair-bound since early teens (median age of 12.0 years). Patients with absent expression of the sarcoglycan complex on muscle biopsy had a significant earlier onset of symptoms and an earlier age of loss of ambulation compared to patients with residual protein expression. This study confirmed that delta-sarcoglycanopathy is an ultra-rare neuromuscular condition and described the clinical and molecular characteristics of the largest yet-reported collected cohort of patients. Our results showed that this is a very severe and quickly progressive disease characterized by generalized muscle weakness affecting predominantly proximal and distal muscles of the limbs. Similar to other forms of sarcoglycanopathies, the severity and rate of progressive weakness correlates inversely with the abundance of protein on muscle biopsy.
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http://dx.doi.org/10.1093/brain/awab301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014751PMC
April 2022

Zytux in Refractory Myasthenia Gravis: A Multicenter, Open-Labeled, Clinical Trial Study of Effectiveness and Safety of a Rituximab Biosimilar.

Front Neurol 2021 26;12:682622. Epub 2021 Aug 26.

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

Myasthenia gravis (MG) is an immune-mediated neuromuscular disorder responsive to immunomodulatory treatments. 10-20% of MGs are not responsive to conventional first-line therapies. Here, we sought to investigate the efficacy and safety of rituximab therapy in the treatment of patients with refractory MG. In a 48-week, multicenter, open-labeled, prospective cohort setting, 34 participants with refractory MG were assigned to receive infusions of Zytux, which is a rituximab biosimilar, according to a validated protocol. Clinical, functional, and quality of life (QoL) measurements were recorded at baseline, and seven further visits using the Myasthenia Gravis Foundation of America (MGFA), Myasthenia Gravis Composite (MGC), Myasthenia Gravis Activities of Daily Living profile (MG-ADL), and Myasthenia Gravis Quality of Life (MGQoL-15) scales. Besides, the post-infusion side effects were systematically assessed throughout the study. The correlation analysis performed by generalized estimating equations analysis represented a significant reduction of MGC, MG-ADL, and MGQoL-15 scores across the trial period. The subgroup analysis based on the patients' clinical status indicated a significant effect for the interaction between time and MGFA subtypes on MG-ADL score, MGC score, and pyridostigmine prednisolone dose, reflecting that the worse clinical condition was associated with a better response to rituximab. Finally, no serious adverse event was documented. Rituximab therapy could improve clinical, functional, and QoL in patients with refractory MG in a safe setting. Further investigations with larger sample size and a more extended follow-up period are warranted to confirm this finding. The study was registered by the Iranian Registry of Clinical Trials (IRCT) (Code No: IRCT20150303021315N18).
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http://dx.doi.org/10.3389/fneur.2021.682622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427762PMC
August 2021

Retrospective analysis of response to rituximab in chronic inflammatory demyelinating polyneuropathy refractory to first-line therapy.

J Peripher Nerv Syst 2021 12 10;26(4):469-474. Epub 2021 Sep 10.

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

Few case reports/series describe the efficacy of rituximab in refractory chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), which is preferred in the presence of anti-nodal/paranodal antibodies. We aimed at evaluating the clinical response to rituximab in a subset of patients with refractory CIDP for whom the anti-nodal/paranodal antibodies status was unknown, as not available in Iran. We retrospectively analyzed the response to rituximab in 14 Iranian patients with refractory CIDP (3 children, 11 adults), in whom the anti-nodal/paranodal antibodies status was unknown. The subjects were evaluated with the Medical Research Council (MRC) sum score (MRCSS), Inflammatory Neuropathy Cause and Treatment (INCAT) disability scores, and electrophysiology, before and after treatment. Mean age was 34.4 ± 20.7 years, disease duration pre-rituximab treatment was 27.8 ± 18.8 (range: 6-60) months, and mean follow-up duration was 18.5 ± 11.0 (range: 4-36) months. Considering the INCAT sum score, one worsened during post-rituximab treatment, and three patients did not change. Considering MRCSS, notably, four patients achieved normalization of their MRCSS. Regarding the corticosteroid dose, two patients could discontinue prednisolone. As rated by a pre-defined scoring system, nerve conduction parameters improved significantly post-rituximab in the treated cohort (P = .006). All patients tolerated rituximab infusions without adverse effects. Rituximab may be effective in refractory CIDP, even though worsening may occur in some patients. Anti-nodal/paranodal antibodies assay, when available, and other criteria may help drive therapeutic decision-making on rituximab as second-line treatment.
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http://dx.doi.org/10.1111/jns.12461DOI Listing
December 2021

Anticipation Can Be More Common in Hereditary Spastic Paraplegia with Mutations Than It Appears.

Can J Neurol Sci 2021 Aug 6:1-11. Epub 2021 Aug 6.

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

Background And Objective: Hereditary spastic paraplegia (HSP) is a heterogeneous neurodegenerative disorder with lower-limb spasticity and weakness. Different patterns of inheritance have been identified in HSP. Most autosomal-dominant HSPs (AD-HSPs) are associated with mutations of the SPAST gene (SPG4), leading to a pure form of HSP with variable age-at-onset (AAO). Anticipation, an earlier onset of disease, as well as aggravation of symptoms in successive generations, may be correlated to SPG4. Herein, we suggested that anticipation might be a relatively common finding in SPG4 families.

Methods: Whole-exome sequencing was done on DNA of 14 unrelated Iranian AD-HSP probands. Data were analyzed, and candidate variants were PCR-amplified and sequenced by the Sanger method, subsequently checked in family members to co-segregation analysis. Multiplex ligation-dependent probe amplification (MLPA) was done for seven probands. Clinical features of the probands were recorded, and the probable anticipation was checked in these families. Other previous reported SPG4 families were investigated to anticipation.

Results: Our findings showed that SPG4 was the common subtype of HSP; three families carried variants in the KIF5A, ATL1, and MFN2 genes, while five families harbored mutations in the SPAST gene. Clinical features of only SPG4 families indicated decreasing AAO in affected individuals of the successive generations, and this difference was significant (p-value <0.05).

Conclusion: It seems SPAST will be the first candidate gene in families that manifests a pure form of AD-HSP and anticipation. Therefore, it may be a powerful situation of genotype-phenotype correlation. However, the underlying mechanism of anticipation in these families is not clear yet.
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http://dx.doi.org/10.1017/cjn.2021.188DOI Listing
August 2021

Thigh and Leg Muscle MRI Findings in GNE Myopathy.

J Neuromuscul Dis 2021 ;8(4):735-742

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

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration.

Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations.

Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients.

Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis.

Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T > C (p.M743T) mutation; however, this finding may be related to longer disease duration.
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http://dx.doi.org/10.3233/JND-210629DOI Listing
December 2021

Myasthenia gravis associated with novel coronavirus 2019 infection: A report of three cases.

Clin Neurol Neurosurg 2021 Sep 23;208:106834. Epub 2021 Jul 23.

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

Several neurological presentations have been reported following coronavirus 2019 (COVID-19) infection. This case report describes three myasthenia gravis (MG) patients presented following COVID-19 infection. We report three adult patients with myasthenic Gravis and COVID-19 infection. The patients are between 38 and 61 years old. Case 1 is a 61-year-old woman with progressive dysphagia, nasal speech, ocular ptosis, diplopia, and proximal muscle weakness for 10 days. She had a COVID-19 infection 6 weeks ago. Case 2 is a 57-year-old man with clinical symptoms of muscular fatigability, diplopia, ptosis, and dysphagia for a week and a positive COVID-19 infection 10 days ago. Case 3 is a 38-year-old woman with fatigability, ptosis, dysphagia, and a diagnosis of COVID-19 infection 4 weeks ago. All patients had a positive RT-PCR for COVID-19 infection by nasopharyngeal swab test and a high-level acetylcholine receptor antibody in the serum. All patients were treated with pyridostigmine and prednisolone with a favorable outcome. MG may appear following COVID-19 infection, and the role of molecular mimicry and latent MG activation should be considered the cause of the disease onset.
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http://dx.doi.org/10.1016/j.clineuro.2021.106834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299214PMC
September 2021

Comparison of Clinical, Ultrasound, and Electrophysiologic Changes in Chronic Inflammatory Demyelinating Polyneuropathy: A Prospective Study.

J Clin Neurophysiol 2021 Jul 6. Epub 2021 Jul 6.

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

Purpose: The follow-up and monitoring of response to immunomodulatory therapy in patients with chronic inflammatory demyelinating polyneuropathy are still challenging. Various outcome measures have been proposed in recent years, and some are now frequently used in daily clinical practice; however, reliable biomarkers for the disease activity and treatment response are lacking.

Methods: Cross-sectional nerve area of the bilateral vagus, fifth and the sixth cervical spinal, median, ulnar, tibial, peroneal, and sural nerves were measured at 2 time points with an interval of 6 months using nerve ultrasound. The results were used to calculate the ultrasound pattern sumscore (UPSS). The correlation between UPSS change (ΔUPSS) and changes in functional and nerve conduction studies measures over the study period were assessed.

Results: Sixteen patients completed this prospective, observational study. General linear model showed that ΔUPSS is significantly associated with ΔMedical Research Council sumscore (β = -0.72, P = 0.003), Δhandgrip strength (β = -0.57, P = 0.014), ΔRasch-built overall disability scale (β = -0.57, P = 0.010), and Δoverall neuropathy limitations scale (β = 0.75, P < 0.001), after adjustment of confounding variables. Nevertheless, ΔUPSS was not correlated with other clinical measures, including Δpinch power, Δ9-hole peg test, Δ10-m walking test, and Δnerve conduction study sumscore (P values > 0.05).

Conclusions: Nerve ultrasound might be an efficient method for monitoring the functional status of patients with chronic inflammatory demyelinating polyneuropathy over time because the alterations in its scores could significantly reflect clinical changes.
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http://dx.doi.org/10.1097/WNP.0000000000000883DOI Listing
July 2021

Disease severity and response to treatment in Iranian patients with myasthenia gravis.

Neurol Sci 2022 Feb 18;43(2):1233-1237. Epub 2021 Jun 18.

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

Purpose: Myasthenia gravis (MG) is a potentially fatal neuromuscular disorder if left untreated. In this study, we tried to address the possible demographic, clinical, and laboratory determinants of severity and outcome in Iranian MG patients over a follow-up period of more than 5 years.

Methods: Demographic and diagnostic data (age, age of onset, antibody status, thymus pathology, and duration of the disease) of the patients with MG were extracted. Maximal disease severity and post-intervention status were assessed according to the recommendations of the task force of the Myasthenia Gravis Foundation of America.

Results: In our series of 146 patients, MG was more severe in older, anti-muscle specific tyrosine kinase (MuSK) positive, and thymomatous patients. Seropositivity to the MuSK antibody and the presence of thymoma determined the need for immunosuppressive drugs. However, the number of patients requiring more than one immunosuppressive was not significantly different among various subtypes.

Conclusions: The overall outcome was favorable in the majority of patients, despite differences in the disease course and severity. In contrary to the previous reports, anti-MuSK positive patients in our series did not need a more vigorous treatment regimen comparing other serologic subtypes of MG.
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http://dx.doi.org/10.1007/s10072-021-05382-0DOI Listing
February 2022

The correlation of the serum level of L-carnitine with disease severity in patients with Amyotrophic lateral sclerosis.

J Clin Neurosci 2021 Jul 13;89:232-236. Epub 2021 May 13.

Iranian Center of Neurological Research, Neuroscience Institute, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: The relationship between reserve of L-carnitine and severity in patients with Amyotrophic lateral sclerosis (ALS) is not studied sufficiently. We decided to measure the serum levels of L-carnitine in patients and the relationship with ALS severity.

Method: This cross-sectional study evaluated the serum levels of L-carnitine in 30 patients with ALS (total-case) divided into two groups included 15 patients in the Oral-Fed (OF) group and 15 patients in the Enteral-Fed (EF) group, compared with 15 healthy people matched in age and sex in the control group. We measured the body mass index (BMI), daily intake of L-carnitine, amyotrophic lateral sclerosis functional rating scale (ALSFRS), and serum L-carnitine level in all participants and compared among groups.

Results: Serum L-carnitine (p < 0.001) and BMI (p = 0.03) were significantly lower in the total-case group compared to the control group. Alternatively, the serum level of L-carnitine (p = 0.001), ALSFRS (p < 0.001), BMI (p = 0.007), and dietary L-carnitine intake (p = 0.002) were significantly higher in OF group compared with EF. Higher serum L-carnitine levels were associated with a higher score of ALSFRS (β = 0.46, P = 0.01) in the total-case group.

Conclusion: Our study's results showed that serum levels of L-carnitine were lower in patients with ALS in comparison to healthy people. Also, the lower serum level of L-carnitine was associated with the higher severity of the disease.
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http://dx.doi.org/10.1016/j.jocn.2021.05.017DOI Listing
July 2021

Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis.

J Neuromuscul Dis 2021 ;8(5):827-829

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

Myasthenia gravis is an autoimmune neuromuscular disease with a multifactorial etiology. A major part of the genetic susceptibility belongs to the HLA encoding genes. In this study, we investigated the role of HLA class II polymorphism in disease severity, and treatment response. In our 146 patients, 15 DRB1, 7 DQA1, and 9 DQB1 alleles, and 19 haplotypes were found. Adjusted p-values did not show any significant associations between these loci, disease severity and treatment outcome. Further studies in different populations with a larger number of patients are needed to determine the exact contribution of HLA class II alleles to MG prognosis.
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http://dx.doi.org/10.3233/JND-210700DOI Listing
November 2021

Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.

J Mol Neurosci 2021 Dec 6;71(12):2526-2533. Epub 2021 Apr 6.

School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multi-system disorder caused by several homozygous or compound heterozygous mutations, mostly in the nuclear gene of TYMP. Our current knowledge on the underlying pathology of the disease is derived through the study of about 200 cases of different ethnicities. Clinical presentations include severe cachexia, weakness, ptosis, diplopia, abdominal cramps or digestive tract disorders, hearing impairment, and paresthesia.Herein, we aim to present five novel mutations of the nuclear gene of TYMP in six Iranian patients diagnosed with MNGIE. In our population, age at the time of diagnosis was 18 to 49 years, while the onset of the symptoms varied from 13 to 20 years. We detected two pathogenic non-frameshift nonsense premature stop codon mutations (c.1013C > A, and c.130C > T), one variant of uncertain significance (VUS) non-frameshift missense mutation (c.345G > T), one likely pathogenic frameshift insertion (c.801_802insCGCG), and one likely benign homozygous non-frameshift deletion (c.1176_1187del) from two siblings. Our findings also confirm the autosomal recessive inheritance pattern of MNGIE in the Iranian population. The lack of knowledge in the area of nuclear gene-modifier genes shadows the genotype-phenotype relationships of MNGIE.
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http://dx.doi.org/10.1007/s12031-021-01822-wDOI Listing
December 2021

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.

Neuromuscul Disord 2021 06 8;31(6):528-531. Epub 2021 Mar 8.

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

Sandhoff disease is a rare fatal infantile neurologic disorder. Adult onset Sandhoff is even rarer. Variability of clinical features in adult onset Sandhoff patients and overlaps between these and features of other neurologic diseases have sometimes led to mis-diagnosis. We describe an adult onset Sandhoff disease affected individual whose clinical presentation were also consistent with the Brown-Vialetto-Van Laere syndrome (BVVL) diagnosis. Screening of BVVL-causing genes, SLC52A3 and SLC52A2, did not identify candidate disease-causing mutations, but exome sequencing revealed compound heterozygous mutations in the known Sandhoff disease-causing gene, HEXB. Decreased blood hexosaminidase activity and evidence of cerebellar atrophy confirmed Sandhoff disease diagnosis. To the best of our knowledge, this is the first report of a Sandhoff disease case that mimics BVVL and that presents with prominent cranial nerve involvement. For differential diagnosis, measurement of hexosaminidase activity and MRI should quickly be performed. Genetic analysis can be done for confirmation of diagnosis.
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http://dx.doi.org/10.1016/j.nmd.2021.03.003DOI Listing
June 2021

Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.

J Neurogenet 2021 Mar-Jun;35(2):84-94. Epub 2021 Mar 26.

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

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder, characterized by lower-limb spasticity and weakness. To date, more than 82 loci/genes (SPG1-SPG82) have been identified that contribute to the cause of HSP. Despite the use of next-generation sequencing-based methods, genetic-analysis has failed in the finding of causative genes in more than 50% of HSP patients, indicating a more significant heterogeneity and absence of a given phenotype-genotype correlation. Here, we performed whole-exome sequencing (WES) to identify HSP-causing genes in three unrelated-Iranian probands. Candidate variants were detected and confirmed in the probands and co-segregated in the family members. The phenotypic data gathered and compared with earlier cases with the same sub-types of disease. Three novel homozygous variants, c.978delT; p.Q327Kfs*39, c.A1208G; p.D403G and c.3811delT; p.S1271Lfs*44, in known HSP-causing genes including , , and were identified, respectively. Intra and interfamilial clinical variability were observed among affected individuals. Mutations in and are relatively common causes of HSP and associated with SPG5A and SPG15, respectively. However, mutations in are related to SPG64 which is an ultra-rare form of HSP. The research affirmed more complexities of phenotypic manifestations and allelic heterogeneity in HSP. Due to these complexities, it is not feasible to show a clear phenotype-genotype correlation in HSP cases. Identification of more families with mutations in HSP-causing genes may help the establishment of this correlation, further understanding of the molecular basis of the disease, and would provide an opportunity for genetic-counseling in these families.
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http://dx.doi.org/10.1080/01677063.2021.1895146DOI Listing
January 2022

Persian adaptation of Edinburgh Cognitive and Behavioural Screen (ECAS).

Amyotroph Lateral Scler Frontotemporal Degener 2021 08 17;22(5-6):426-433. Epub 2021 Feb 17.

School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

: To adapt the Edinburgh Cognitive and Behavioral screen (ECAS) English version into Persian. The ECAS test was adapted and implemented to 30 ALS patients and 31 healthy volunteers in Tehran, Iran. The ECAS results were compared to MoCA and ALS-FRS-r, the other standard tools to determine whether the translated version is reliable and valid in the new language. In addition, the patients' caregivers were interviewed for behavioral and psychiatric changes. The Persian version of ECAS revealed high internal consistency (α = 0.791), alongside the strong correlation of ECAS and its subscales with MoCA and ALS-FRS. Moreover, Persian ECAS discriminated against the patients and the healthy population well. Sensitivity analysis revealed promising results of Persian ECAS with an area under the curve of 0.871 in ROC curve analysis. Cognitive impairment was observed in 43.33% of patients. The Persian version of the ECAS, exclusively designed for the Iranian population, is the first screening tool to assess multiple neuropsychological functions, which provides a rapid and inclusive screen of cognitive and behavioral impairments specifically in ALS patients.
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http://dx.doi.org/10.1080/21678421.2021.1883665DOI Listing
August 2021

Investigating the possible association between NLRP3 gene polymorphisms and myasthenia gravis.

Muscle Nerve 2021 05 18;63(5):730-736. Epub 2021 Feb 18.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: In this case-control study, we investigated the association between nucleotide oligomerization domain-like receptor family pyrin domain containing 3 (NLRP3) single-nucleotide polymorphisms (SNPs) rs10754558, rs3806265, rs4612666, and rs35829419 and myasthenia gravis (MG).

Methods: Samples from MG patients were selected from a previous study conducted in our neuromuscular clinic, which investigated the association between human leukocyte antigen (HLA) class II genes and MG. Genetic data of controls were also available from another study. The NLRP3 SNPs genotyping was performed using the TaqMan method.

Results: A total of 93 blood samples from eligible Iranian patients with MG and 56 samples from healthy controls were obtained. The NLRP3 rs3806265 "C" allele was significantly more frequent in MG patients (P < .001; odd ratio [OR] = 2.33, 95% confidence interval [CI]: 1.4-4.0) than controls. The "CC" genotype of this SNP was found in 18.27% of patients, but none of the controls (P < .001). The distribution of other SNPs was similar between the groups.

Discussion: These preliminary results suggest that there might be some associations between the NLRP3 gene polymorphism and MG.
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http://dx.doi.org/10.1002/mus.27193DOI Listing
May 2021

Application of CMAP scan for the evaluation of patients with chronic inflammatory demyelinating polyneuropathy: a prospective study.

Neurophysiol Clin 2021 Mar 7;51(2):175-181. Epub 2021 Jan 7.

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

Aims: We aimed to assess the compound muscle action potential (CMAP) scan in the follow-up of chronic inflammatory demyelinating polyneuropathy (CIDP) patients and investigate the correlation of CMAP scan parameters with functional and standard electrodiagnostic tests.

Methods: We evaluated four parameters of abductor pollicis brevis (APB) CMAP scan (i.e., step numbers, step percentage, S10, S90), functional measures (e.g., Medical Research Council Sum Scores), and electrodiagnostic tests, including nerve conduction study (NCS) and motor NCS of the median nerve in the baseline and after six months of treatment.

Results: Twenty patients completed baseline clinical and electrodiagnostic studies. However, sixteen patients completed the follow-up study. The median of step numbers at baseline was 3.5 (2-4.2), which decreased to 2.5 (0-3) (p = 0.005). After the treatment, step percentage reduced from 28.6 (23.9-38.7) to 13.4 (0-23.6) (p = 0.001). The scores obtained from the clinical scales showed significant recovery of most of the functions, while the alterations of NCSS and NCS of the median nerve were not significant.

Conclusions: We found a significant reduction in step number and step percentage after follow-up. This alteration was not reflected in standard electrodiagnostic values. The improvement of functional scales alongside the CMAP scan parameters suggests that the CMAP scan could be considered an appropriate outcome measurement in research and clinical fields.
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http://dx.doi.org/10.1016/j.neucli.2020.12.005DOI Listing
March 2021

Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients.

Neuromuscul Disord 2021 01 12;31(1):29-34. Epub 2020 Nov 12.

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

Sporadic late-onset nemaline myopathy (SLONM) is a rare, acquired muscle disease presenting with subacute progression in adulthood. It can be accompanied by a monoclonal gammopathy of undetermined significance (MGUS). We describe clinical and histopathological findings of four SLONM patients with MGUS. In all patients, nemaline rod, inter-myofibrillary network disruption, atrophic changes, peripheral basophilic discoloration, vacuole without rim, and cytoplasmic body without inflammation were seen. Three out of four patients were treated with prednisolone in combination with IVIG monthly and had an appropriate response to the treatment. The optimal first-line treatment remains unclear in SLONM-MGUS, although corticosteroids plus IVIg is associated with favorable clinical response. These treatment modalities might be used as an optional treatment before autologous stem cell transplantation; however, further studies with a higher number of patients are required.
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http://dx.doi.org/10.1016/j.nmd.2020.11.004DOI Listing
January 2021

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

Neurobiol Aging 2021 03 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

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.

J Neurol 2021 Feb 8;268(2):640-650. Epub 2020 Sep 8.

School of Biology, College of Science, University of Tehran, Tehran, Iran.

Background: Charcot-Marie-Tooth (CMT) disease is a prevalent and heterogeneous peripheral neuropathy. Most patients affected with the axonal form of CMT (CMT2) do not harbor mutations in the approximately 90 known CMT-associated genes. We aimed to identify causative genes in two CMT2 pedigrees.

Methods: Neurologic examination, laboratory tests and brain MRIs were performed. Genetic analysis included exome sequencing of four patients from the two pedigrees. The predicted effect of a deep intronic mutation on splicing was tested by regular and real-time PCR and sequencing.

Results: Clinical data were consistent with CMT2 diagnosis. Inheritance patterns were autosomal recessive. Exome data of CMT2-101 did not include mutations in known CMT-associated genes. Sequence data, segregation analysis, bioinformatics analysis, evolutionary conservation, and information in the literature strongly implicated HADHA as the causative gene. An intronic variation positioned 23 nucleotides away from following intron/exon border in GDAP1 was ultimately identified as cause of CMT in CMT2-102. It was shown to affect splicing.

Conclusion: The finding of a HADHA mutation as a cause of CMT is of interest because its encoded protein is a subunit of the mitochondrial trifunctional protein (MTP) complex, a mitochondrial enzyme involved in long chain fatty acid oxidation. Long chain fatty acid oxidation is an important source of energy for skeletal muscles. The mutation found in CMT2-102 is only the second intronic mutation reported in GDAP1. The mutation in the CMT2-102 pedigree was outside the canonical splice site sequences, emphasizing the importance of careful examination of available intronic sequences in exome sequence data.
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http://dx.doi.org/10.1007/s00415-020-10171-4DOI Listing
February 2021

Application of muscle ultrasound for the evaluation of patients with amyotrophic lateral sclerosis: An observational cross-sectional study.

Muscle Nerve 2020 10 14;62(4):516-521. Epub 2020 Aug 14.

Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Jalal al Ahmad, Tehran, 1411713135, Iran.

Introduction: We evaluated the association between muscle ultrasound, number of motor units, and clinical parameters, and assessed their utility for distinguishing amyotrophic lateral scleorisis (ALS) patients from healthy individuals.

Methods: Three muscle pairs (abductor pollicis brevis, abductor digiti minimi, and tibialis anterior) of 18 ALS patients and 18 controls underwent muscle ultrasound (echointensity and thickness) and assessment of motor unit number index (MUNIX). The clinical and functional status of participants were also assessed.

Results: Mean age of the patients was 53.8 ± 12.1 years, and score on the ALS Functional Rating Scale-Revised was 38.9 ± 4.1. Echointensity of all tested muscles of ALS participants was significantly higher than that of controls, but there was no significant difference in muscle thickness. Muscle echointensity correlated significantly with clinical and electrophysiological parameters.

Conclusion: Echointensity of muscles was highly associated with clinical scales and MUNIX, confirming its relevance as an ancillary diagnostic test in ALS patients.
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http://dx.doi.org/10.1002/mus.27036DOI Listing
October 2020

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

Arch Iran Med 2020 07 1;23(7):426-433. Epub 2020 Jul 1.

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

Background: Inherited peripheral neuropathies (IPNs) are a group of neuropathies affecting peripheral motor and sensory neurons. Charcot-Marie-Tooth (CMT) disease is the most common disease in this group. With recent advances in next-generation sequencing (NGS) technologies, more than 100 genes have been implicated for different types of CMT and other clinically and genetically inherited neuropathies. There are also a number of genes where neuropathy is a major feature of the disease such as spinocerebellar ataxia (SCA) and hereditary spastic paraplegia (HSP). We aimed to determine the genetic causes underlying IPNs in Iranian families.

Methods: We performed whole exome sequencing (WES) for 58 PMP22 deletion-/duplication-negative unrelated Iranian patients with a spectrum of phenotypes and with a preliminary diagnosis of hereditary neuropathies.

Results: Twenty-seven (46.6%) of the cases were genetically diagnosed with pathogenic or likely pathogenic variants. In this study, we identified genetically strong variants within genes not previously linked to any established disease phenotype in five (8.6%) patients.

Conclusion: Our results highlight the advantage of using WES for genetic diagnosis in highly heterogeneous diseases such as IPNs. Moreover, functional analysis is required for novel and uncertain variants.
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http://dx.doi.org/10.34172/aim.2020.39DOI Listing
July 2020

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Mol Genet Genomic Med 2020 07 8;8(7):e1240. Epub 2020 May 8.

School of Biology, College of Science, University of Tehran, Tehran, Iran.

Background: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not be straight forward.

Methods: The DNAs of referred ARHSP and JALS patients were exome sequenced. Clinical data of patients with SPG11 mutations were gathered by interviews and neurological examinations including electrodiagnosis (EDX) and magnetic resonance imaging (MRI).

Results: Eight probands with SPG11 mutations were identified. Two mutations are novel. Among seven Iranian probands, six carried the p.Glu1026Argfs*4-causing mutation. All eight patients had features known to be present in both ARHSP and JALS. Additionally and surprisingly, presence of both thin corpus callosum (TCC) on MRI and motor neuronopathy were also observed in seven patients. These presentations are, respectively, key suggestive features of ARHSP and JALS.

Conclusion: We suggest that rather than ARHSP or JALS, combined ARHSP/JALS is the appropriate description of seven patients studied. Criteria for ARHSP, JALS, and combined ARHSP/JALS designations among patients with SPG11 mutations are suggested. The importance of performing both EDX and MRI is emphasized. Initial screening for p.Glu1026Argfs*4 may facilitate SPG11 screenings in Iranian patients.
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http://dx.doi.org/10.1002/mgg3.1240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336765PMC
July 2020

The role of opening CSF pressure in response to treatment for idiopathic intracranial hypertension (IIH).

J Clin Neurosci 2020 Jun 21;76:171-176. Epub 2020 Apr 21.

Tehran University of Medical Sciences, Headache Department, Iranian Center of Neurological Research, Tehran, Iran.

The aim of the current study was to assess the risk factors, clinical symptoms and Cerebrospinal fluid (CSF) pressure of idiopathic intracranial hypertension (IIH) with emphasis on determining the risk factors which involved in poor response to treatment. We retrospectively included 202 patients who were diagnosed with IIH. Disease severity was classified according to prescribed therapeutic option into 4 groups: acetazolamide (group 1), Acetazolamide plus topiramate or Lasix (group 2), repeated LP (group 3) and surgical intervention (group 4). Being in the higher group was considered as a higher severity of disease and poor response to treatment. Among the evaluated features of IIH, the strongest association were observed between opening CSF pressure and disease severity. So that, the highest CSF pressure was observed in patients who underwent surgery, which represent the highest severity of disease (group 4) and poor response to therapy (mean ± SD: 43.9 ± 21.1 cm HO). Headache was the most prevalent symptom of IIH in our series which was significantly higher among acetazolamide group. Blurred vision was the second most common symptoms which, unlike the headache was more reported in surgery group. Our results suggested that higher CSF pressure could be the risk factors of poor response to therapy, which may raise need for more intensive treatment. Furthermore, suffering of headache without blurred vision can consider as a prognostic factor for mild severity and good response to treatment.
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http://dx.doi.org/10.1016/j.jocn.2020.04.066DOI Listing
June 2020

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.

J Neurol Sci 2020 Apr 23;411:116707. Epub 2020 Jan 23.

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

Introduction: Multiple acyl-coenzyme A dehydrogenase deficiency disorder (MADD) is a relatively rare disorders of lipid metabolism. This study aimed to investigate the demographic, clinical, and genetic features of MADD in Iran.

Methods: Twenty-nine patients with a definite diagnosis of lipid storage myopathy were recruited. All patients were tested for mutation in the ETFDH gene, and 19 had a biallelic mutation in this gene.

Results: Of 19 patients with definite mutations, 11 (57.9%) were female, and the median age was 31 years. Twelve patients had c.1130 T > C (p.L377P) mutation in exon 10. Two patients had two novel heterozygote pathogenic variants (c.679C > T (p.P227S) in exon 6 and c.814G > A (p.G272R) in exon 7) and two patients had c.1699G > A (p.E567K) in exon 13. Before treatment, the median muscle power was 4.6 (IQR: 4-4.7) that increased to 5 (IQR: 5-5) after treatment (Z = -3.71, p = .000). The median CK was 1848 U/l (IQR: 1014-3473) before treatment, which declined to 188 U/l (IQR: 117-397) after treatment (Z = -3.41, p = .001). Sixteen patients (84.2%) had full recovery after the treatment. The disease onset was earlier (12 years of age; IQR: 6-18) in patients with homozygous c.1130 T > C; p.(L377P) mutation compared to other ETFDH mutations (30 years of age; IQR: 20-35) (p = .00).

Discussion: MADD has different clinical presentations. As the patients respond favorably to treatment, early diagnosis and treatment may prevent the irreversible complications of the disease.
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http://dx.doi.org/10.1016/j.jns.2020.116707DOI Listing
April 2020

An overview of motor unit number index reproducibility in amyotrophic lateral sclerosis.

Iran J Neurol 2019 Jul;18(3):119-126

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

Motor unit number index (MUNIX) is an electrophysiological technique to give an estimate of functioning motor neurons in a muscle. For any given neurophysiological technique for the use in clinical or research studies, reproducibility between different operators and in a single operator in different times is one of the most important qualities, which must be evaluated and approved by different examiners and centers. After its introduction, testing the reproducibility of MUNIX was the aim of many studies to show this quality of the technique. In this review, we aimed to summarize all the studies, which have been performed up to now to approve MUNIX reproducibility in amyotrophic lateral sclerosis comparing healthy individuals.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858602PMC
July 2019
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