Distal median nerve dysfunction and carpal tunnel syndrome in people with multiple sclerosis treated with teriflunomide: an electrodiagnostic study.

Background: Trials demonstrated an increased risk of distal median nerve dysfunction (DMND) and carpal tunnel syndrome (CTS) associated with teriflunomide in people with multiple (pwMS).

Objective: To estimate the real-world prevalence of clinical CTS and electrodiagnostic DMND in teriflunomide-treated pwMS.

Methods: Cross-sectional study on selected teriflunomide (WHOATC code: L04AK02)-treated, risk factor-free pwMS at the Isfahan MS clinic in 2022.

On genotype-phenotype relationship of dystrophinopathies among Iranian population.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are inherited X-linked disorders resulting from alterations in the dystrophin gene. Genotype-phenotype matching studies have revealed a link between disease severity, the amount of muscle dystrophin, and the extent of mutation/deletion on the dystrophin gene. This study aimed to assess the relationship between genetic alterations in the dystrophin gene and the clinical status of patients with dystrophinopathies among the Iranian population.

Iranian clinical practice guideline for amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegeneration involving motor neurons. The 3-5 years that patients have to live is marked by day-to-day loss of motor and sometimes cognitive abilities. Enormous amounts of healthcare services and resources are necessary to support patients and their caregivers during this relatively short but burdensome journey.

Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense Variant: Case Series and Literature Review.

Background: Biallelic variants in were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of -related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with bulbar involvement, and infantile seizures.

Cases: We report four individuals with a new phenotype of childhood-onset choreo-dystonia belonging to two unrelated Iranian pedigrees and harboring a novel homozygous nonsense pathogenic variant NM_002143.

Clinical and Neuroimaging Characteristics of Ischemic Stroke in Rhino-Orbito-Cerebral Mucormycosis Associated with COVID-19.

Purpose: The aim of this study was to compare clinical, neuroimaging, and laboratory features of rhino-orbito-cerebral mucormycosis (ROCM) in COVID-19 patients with and without ischemic stroke complications.

Methods: This observational study was conducted between August and December 2021 and 48 patients who had confirmed ROCM due to COVID-19, according to neuroimaging and histopathology/mycology evidence were included. Brain, orbit and paranasal sinus imaging was performed in all included patients.

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.

Background: Limb-girdle muscular dystrophy (LGMD) is a non-syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next-generation sequencing (NGS) a necessary approach for the proper diagnosis of LGMD.

Methods: In this article, 26 Iranian patients with LGMD criteria were diagnosed with disease variants in the genes encoding calpain3, dysferlin, sarcoglycans and Laminin α-2.

Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations.

Infantile neuroaxonal dystrophy (INAD) is a rare recessive neurodegenerative disorder manifested by symptoms like hypotonia, extrapyramidal signs, spastic tetraplegia, vision problems, cerebellar ataxia, cognitive complications, and dementia before the age of three. Various reports evaluated the relationship between the incidence of INAD and different mutations in the PLA2G6 gene. We described cases of two children with INAD whose diagnoses were challenging due to misleading findings and a mutation in the C.

Parsonage-Turner Syndrome following COVID-19 Infection: A Rare and Unique Case.

Parsonage-Turner syndrome (PTS) is a rare syndrome of unknown etiology; however, it is believed that an abnormality of immune response after a previous infection may be the cause of the disease. We report neuralgic amyotrophy in a patient with a history of kidney transplantation with severe acute respiratory distress syndrome coronavirus 2 infection. This literature is reviewed regarding clinical presentation, etiology, treatment, and prognosis of PTS after COVID-19 infection.

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

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.

Iranian Consensus Recommendations for Treatment of Myasthenia Gravis.

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.

Prevalence and Risk Factors of Posterior Reversible Encephalopathy Syndrome in Isfahan, Iran.

Background: Posterior reversible encephalopathy syndrome (PRES) is a rare clinical-radiological syndrome characterized by such symptoms as headaches, altered consciousness, blurred vision, seizure, and focal neurological deficits. We herein present well-documented PRES cases and discuss the risk factors and characteristic imaging patterns of this syndrome.

Materials And Methods: We prospectively examined 31 patients with PRES in Alzahra Hospital, Isfahan, Iran, and compared the underlying diseases of PRES in terms of their clinical features and cranial magnetic resonance imaging (MRI) findings.

Gabapentin versus Pregabalin for management of chronic inflammatory demyelinating polyradiculoneuropathy.

Introduction: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a chronic autoimmune demyelinating peripheral neuropathy that leads to symmetrical muscular weakness, sensory deficit, hyporeflexia, chronic fatigue, and impaired quality of life (QoL). The current study aims to investigate the effects of gabapentin versus pregabalin on pain, sleep disturbances, and QoL in CIDP patients.

Methods: This clinical trial was conducted on 40 patients diagnosed with CIDP randomly allocated to treatment with 100-500 mg gabapentin (n=20) or 50-300 mg pregabalin (n=20) both co-medicated with 37.

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

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.

Peculiar Presentation of COVID-19: A Case Report of Concurrent Stroke and Guillain-Barré Syndrome.

Background: Coronavirus disease 2019 (COVID-19) is a newly recognized infectious disease that has turned into a pandemic. There are few studies reporting Guillain-Barré syndrome (GBS) and stroke separately associated with COVID-19. In this study, we report an unusual case of COVID-19 with stroke and GBS concurrently.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease.

Rhabdomyolysis and Muscle Necrosis Induced By Lead Poisoning.

A case is presented on a 40-year-old male with chronic lead poisoning with loss of consciousness, rhabdomyolysis, and acute renal failure after occupational exposure. Physical examination revealed generalized atrophy, tenderness, and swelling in the right limb and a decreased proximal muscle strength in the lower limb. A severe acute polyradiculoneuropathy in lower limbs documented by electromyography.

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in .

Variants in , encoding the germinal-centre associated nuclear protein, have been associated with progressive polyneuropathy with or without intellectual disability and ptosis in some cases, and with a complex phenotype with immunodeficiency, skin changes and myelodysplasia. encoded protein functions as an acetyltransferase that acetylates the replication protein, MCM3, and plays a key role in the regulation of DNA replication. In this study, we report a novel variant in (p.

Guillain-Barre syndrome in patients with coronavirus disease-2019: Report of six cases and review of literature.

Few studies have reported the association of Guillain-Barre syndrome (GBS) and coronavirus disease-2019 (COVID-19) infection. In this study, we reported GBS in six patients infected with COVID-19 and reviewed all existing literature about GBS in association with COVID-19. This study was performed in three referral centers of COVID-19 in Iran, and six patients with the diagnosis of GBS were enrolled.

Association of helicobacter pylori with multiple sclerosis: Protective or risk factor?

Multiple sclerosis (MS) is a common autoimmune inflammatory disease in the central nervous system (CNS) without exact pathology. Environmental factors such as infections have a causal or protective role in MS. Helicobacter pylori (HP) is one of the infections in digestive diseases and previous studies reported controversial findings of this infection role in MS.

Quantitative muscle MRI study of patients with sporadic inclusion body myositis.

Background: Fat infiltration in individual muscles of sporadic inclusion body myositis (sIBM) patients has rarely been assessed.

Methods: Sixteen sIBM patients were assessed using MRI of the thighs and lower legs (LL). The severity of fat infiltration, proximal-to-distal and side asymmetries, and the correlations with clinical and functional parameters were investigated.

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Background: Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is one of the most common genetic causes of mortality in infants. It is characterized by degeneration of anterior horn cells in the spinal cord, leading to progressive muscle weakness and atrophy.

Epidemiology and Clinical Features of Guillain-Barre Syndrome in Isfahan, Iran.

Background: Guillain-Barre syndrome (GBS) is an immune-mediated peripheral neuropathy. We compared clinical, laboratory characteristics, and disease course of GBS subtypes in a large group of Iranian patients in Isfahan.

Materials And Methods: We collected data from patients who were admitted to Alzahra referral university Hospital, Isfahan, Iran with a diagnosis of GBS.

Determination of cut-off point of cross-sectional area of median nerve at the wrist for diagnosing carpal tunnel syndrome.

The most common entrapment mononeuropathy of the upper extremity is carpal tunnel syndrome (CTS). It consists 90% of entrapment neuropathies. The purpose of this study was to compare cross-sectional area (CSA) of the median nerve at the wrist in CTS patients and healthy controls and define the best cut-off point of CSA to differentiate patients and controls in Iranian population.