Association between Cytotoxic T-Lymphocyte-Associated Antigen 4 (CTLA-4) Locus and Early-Onset Anti-acetylcholine Receptor-Positive Myasthenia Gravis in Serbian Patients.

Genome-wide association studies (GWAS) have provided strong evidence that early- and late-onset MG have different genetic backgrounds. Recent in silico analysis based on GWAS results revealed rs231735 and rs231770 variants within CTLA-4 locus as possible MG causative genetic factors. We aimed to explore the association of rs231735 and rs231770 with MG in a representative cohort of Serbian patients.

A misdiagnosed myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies with possible childhood onset.

Introduction: Childhood onset myasthenia gravis associated with anti-muscle-specific tyrosine kinase antibodies is very rare and atypical in presentation.

Case Report: As a baby, the pre- sented patient was choking and sleeping with open eyes. She had weak cry and breathing difficulties.

Diagnostic value of combined magnetic resonance imaging examination of brachial plexus and electrophysiological studies in multifocal motor neuropathy.

Background/aim: Multifocal motor neuropathy (MMN) is an immune-mediated disorder characterised by slowly progressive asymetrical weakness of limbs without sensory loss. The objective of this study was to investigate the involvement of brachial plexus using combined cervical magnetic stimulation and magnetic resonance imaging (MRI) of plexus brachialis in patients with MMN. We payed special attention to the nerve roots forming nerves inervating weak muscles, but without detectable conduction block (CB) using conventional nerve conduction studies.

[Disulfiram-induced polyneurophaty].

Introduction: Disulfiram is used in the treatment of chronic alcoholism, because of the unpleasant symptoms produced after ethanol intake. Although it is well tolerated in most patients, one in 15,000 patients will develop peripheral neuropathy every year, which is frequently misdiagnosed as alcoholic neuropathy.

Case Report: We report clinical, laboratory, electrophysiological and histopathological features in a 19-year-old patient who developed an acute distal sensorymotor neuropathy during the treatment of alcoholism.

Immunoreactivity of glycoproteins isolated from human peripheral nerve and Campylobacter jejuni (O:19).

Objective: Antibodies to ganglioside GM1 are associated with Guillain-Barré Syndrome (GBS) in patients with serologic evidence of a preceding infection with Campylobacter jejuni. Molecular mimicry between C. jejuni Lipopolysaccharide (LPS) and ganglioside GM1 has been proven to be the immunopathogenic mechanism of the disease in the axonal variant of GBS.

Cross-reactive epitopes present in campylobacter jejuni serotypes isolated from enteritis patients.

Campylobacter jejuni (C. jejuni) infection frequently triggers autoimmune-mediated neuropathies, especially the Guillain-Barre syndrome (GBS). The molecular mimicry between the core oligosaccharides of bacterial lipopolysaccharides (LPSs) and the human gangliosides presumably results in the production of anti-neural cross-reactive antibodies which are likely to be a contributory factor in the induction and pathogenesis of GBS.

Guidelines for treatment of autoimmune neuromuscular transmission disorders.

Background: Important progress has been made in our understanding of the autoimmune neuromuscular transmission (NMT) disorders; myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS) and neuromyotonia (Isaacs' syndrome).

Methods: To prepare consensus guidelines for the treatment of the autoimmune NMT disorders, references retrieved from MEDLINE, EMBASE and the Cochrane Library were considered and statements prepared and agreed on by disease experts.

Conclusions: Anticholinesterase drugs should be given first in the management of MG, but with some caution in patients with MuSK antibodies (good practice point).

Enteritis caused by Campylobacter jejuni followed by acute motor axonal neuropathy: a case report.

Introduction: Campylobacter species represent the main cause of bacterial diarrhea in developed countries and one of the most frequent causes of enterocolitis in developing ones. In some patients, Campylobacter jejuni infection of the gastrointestinal tract has been observed as an antecedent illness of acute motor axonal neuropathy, a variant of Guillain-Barré syndrome.

Case Presentation: We present a case of acute motor axonal neuropathy following infection with Campylobacter jejuni subspecies jejuni, biotype II, heat stable serotype O:19.

[The effect of benfothiamine in the therapy of diabetic polyneuropathy].

Introduction: Diabetic polyneuropathy (DPN) is one of the most common diabetic complications, which can result in a significant functional impairment and reduction of the quality of life in affected individuals. It occurs due to alterations in different biochemical mechanisms which require the presence of thiamine, which is why this vitamin is used in the therapy of DPN. Due to the low bioavailability of the hydrosolubile forms of thiamine, its liposolubile preparations (benfotiamine) are preferentially used.

Impairment of cardiac autonomic control in patients with amyotrophic lateral sclerosis.

The aim of this study was to investigate autonomic cardiac control in patients with amyotrophic lateral sclerosis (ALS). Fifty-five patients with sporadic ALS (28 female and 27 male; average age 56.00 +/- 10.

Leptin and the metabolic syndrome in patients with myotonic dystrophy type 1.

Objectives: To evaluate serum leptin concentration and its relation to metabolic syndrome (MSy) in non-diabetic patients with myotonic dystrophy type 1 (DM1).

Materials And Methods: This study included 34 DM1 patients, and the same number of healthy subjects matched for age, sex and body mass index (BMI).

Results: DM1 patients had increased BMI and insulin resistance, and increased leptin and insulin concentrations, but the other features of MSy such as diabetes, glucose intolerance and hypertension were not detected in DM1 patients.

Hereditary motor and sensory neuropathy Lom type in a Serbian family.

Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones.

EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases: EFNS task force on the use of intravenous immunoglobulin in treatment of neurological diseases.

Despite high-dose intravenous immunoglobulin (IVIG) is widely used in treatment of a number of immune-mediated neurological diseases, the consensus on its optimal use is insufficient. To define the evidence-based optimal use of IVIG in neurology, the recent papers of high relevance were reviewed and consensus recommendations are given according to EFNS guidance regulations. The efficacy of IVIG has been proven in Guillain-Barré syndrome (level A), chronic inflammatory demyelinating polyradiculoneuropathy (level A), multifocal mononeuropathy (level A), acute exacerbations of myasthenia gravis (MG) and short-term treatment of severe MG (level A recommendation), and some paraneoplastic neuropathies (level B).

[Myasthenia gravis--a disease with variable impact on working capability].

Myasthenia gravis (MG) is a heterogeneous disease composed of several entities with disturbed neuromuscular transmission. The most frequent and clinically most important form of MG is an acquired autoimmune MG which includes more than 90% of all patients with failure of neuromuscular transmission. The main clinical feature of MG is changeable pathologic fatigability and weakness of one or more skeletal muscles and variable distribution of affected muscles.

[Epidemiology of myasthenia gravis].

Myasthenia gravis (MG) is an organ-specific autoimmune disorder characterized by weakness and fatigue of voluntary muscles, and presence of autoantibodies to acetylcholine receptor of postsynaptic muscle membrane. A review of the international literature suggests that there is large variety of MG frequency and distribution. An annual incidence rate of MG is thought to be between 0.

Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history.

Myotonic dystrophy type 1 (DM1) is an autosomal dominant inheritable disease associated with an expansion of CTG repeats in the 3' UTR of the DMPK gene. The subject is an 11-year-old girl with atypical myopathy. Because the proband's family has a positive DM1 history, a molecular-genetic analysis for DM1 was performed.

Guidelines for the treatment of autoimmune neuromuscular transmission disorders.

Important progress has been made in our understanding of the cellular and molecular processes underlying the autoimmune neuromuscular transmission (NMT) disorders; myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS) and neuromyotonia (peripheral nerve hyperexcitability; Isaacs syndrome). To prepare consensus guidelines for the treatment of the autoimmune NMT disorders. References retrieved from MEDLINE, EMBASE and the Cochrane Library were considered and statements prepared and agreed on by disease experts and a patient representative.

Survival and mortality of myotonic dystrophy type 1 (Steinert's disease) in the population of Belgrade.

The purpose of this investigation was to determine survival and mortality in patients with myotonic dystrophy type 1 (DM1) in the Belgrade population within the period from 1983 to 2002. Data of a number of diagnosed DM1 patients with their demographic, clinical and genetic characteristics were gathered from hospital records in all neurologic institutions in Belgrade for the period 1983-2002. Death certificates were reviewed to determine the cause of death.

Epidemiology of myotonic dystrophy type 1 (Steinert disease) in Belgrade (Serbia).

The aim of this study was to estimate the incidence and prevalence of myotonic dystrophy type 1 (DM1) in Belgrade during the period 1983-2002. The patients who had DM1 were ascertained through hospital records from all neurological departments in Belgrade during 1983-2002. The molecular genetic analysis was performed in all patents included in the study.

Diagnosis and Treatment of Chronic Immune-mediated Neuropathies.

The chronic autoimmune neuropathies are a diverse group of disorders, whose diagnosis and classification is based on the clinical presentations and results of ancillary tests. In chronic inflammatory demyelinating polyneuropathy, controlled therapeutic trials demonstrated efficacy for intravenous gamma-globulins, corticosteroids, and plasmaphereis. In multifocal motor neuropathy, intravenous gamma-globulins have been shown to be effective.

[High doses of immunoglobulin G in the therapy for severe forms of myasthenia gravis and Guillain-Barré syndrome].

Background/aim: High doses of immunoglobulin G (IVIG) have been recognized as a very important therapeutic modality in the treatment of neurological diseases. The aim of this report was to present our experience in the treatment of severe forms of myasthenia gravis (MG) and Guillain-Barré syndrome (GBS).

Methods: We analyzed the efficacy and safety of immunoglobulin G therapy in 53 patients with severe forms of myasthenia gravis, and 27 patients with very severe forms of Guillain-Barré syndrome.

Biotransformation of nitric oxide in the cerebrospinal fluid of amyotrophic lateral sclerosis patients.

Recent findings indicate that nitric oxide (NO*) over-production might be an important factor in the pathogenesis of sporadic amyotrophic lateral sclerosis (SALS). We measured significantly higher concentrations of uric acid and thiol group-containing molecules (R-SH groups) in the cerebrospinal fluid (CSF) from SALS patients compared to controls. The above factors, together with a slightly increased free iron concentration found in the CSF, favour conditions necessary for the formation of the dinitrosyl iron complex, capable of NO* bio-transformation.