Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia.

Introduction: Biomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need and phosphorylated neurofilament heavy chain (pNF-H) holds significant promise.

Methods: We conducted a longitudinal prospective study to evaluate pNF-H levels in the cerebrospinal fluid (CSF) and plasma of 29 individuals with childhood-onset SMA treated with Nuinersen (SMA type 1:  = 6, 2:  = 17, 3:  = 6). pNF-H levels before and during treatment were compared with the levels of controls ( = 22), patients with Duchenne muscular dystrophy ( = 17), myotonic dystrophy type 1 ( = 11), untreated SMA individuals with chronic type 3 disease ( = 8), and children with presymptomatic SMA ( = 3).

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed.

Erythrocyte fatty acid aberrations in Amyotrophic Lateral Sclerosis: Correlation with disease duration.

Background: Recent literature data highlights metabolic changes in amyotrophic lateral sclerosis (ALS). To explore possible early metabolic changes, we aimed to analyse the fatty acids (FA) composition of erythrocytes in newly diagnosed als patients and to see whether fatty acid levels correlate with the ALSFRS-R score or disease duration.

Methods: The severity of motor function involvement was assessed by the ALSFRS-R scale at the initial evaluation.

Cytokine Gene Polymorphisms in Patients with Chronic Inflammatory Demyelinating Polyneuropathy.

Innate and adaptive immune responses exert their role in CIDP pathogenesis through cytokine production. Single-nucleotide polymorphisms (SNPs) may alter cytokine gene expression, with a potential influence on the pathogenesis of autoimmune diseases. However, cytokine gene SNPs have not been assessed in CIDP patients yet.

Efficacy of Pregabalin and Duloxetine in Patients with Painful Diabetic Peripheral Neuropathy (PDPN): A Multi-Centre Phase IV Clinical Trial-BLOSSOM.

Introduction: Our trial (ClinicalTrials.gov Identifier: NCT04246619) evaluates the efficacy of two generic medications, pregabalin and duloxetine, for treating pain in PDPN patients.

Methods: The patients were randomised either into the pregabalin (99) or the duloxetine (102) arm.

Downregulation of LKB1/AMPK Signaling in Blood Mononuclear Cells Is Associated with the Severity of Guillain-Barre Syndrome.

AMP-activated protein kinase (AMPK) is an intracellular energy sensor that regulates metabolic and immune functions mainly through the inhibition of the mechanistic target of rapamycin (mTOR)-dependent anabolic pathways and the activation of catabolic processes such as autophagy. The AMPK/mTOR signaling pathway and autophagy markers were analyzed by immunoblotting in blood mononuclear cells of 20 healthy control subjects and 23 patients with an acute demyelinating form of Guillain-Barré syndrome (GBS). The activation of the liver kinase B1 (LKB1)/AMPK/Raptor signaling axis was significantly reduced in GBS compared to control subjects.

Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.

Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year prospective period.

Anatomic and MRI bases for medullary infarctions with patients' presentation.

Objective: There is a low incidence of the medullary infarctions and sparse data about the vascular territories, as well as a correlation among the anatomic, magnetic resonance imaging (MRI) and neurologic signs.

Materials And Methods: Arteries of the 10 right and left sides of the brain stem were injected with India ink, fixed in formalin and microdissected. The enrolled 34 patients with medullary infarctions underwent a neurologic, MRI and Doppler examination.

Anatomic and MRI Bases for Pontine Infarctions with Patients Presentation.

Objectives: There are scarce data regarding pontine arteries anatomy, which is the basis for ischemic lesions following their occlusion. The aim of this study was to examine pontine vasculature and its relationships with the radiologic and neurologic features of pontine infarctions.

Materials And Methods: Branches of eight basilar arteries and their twigs, including the larger intrapontine branches, were microdissected following an injection of a 10% mixture of India ink and gelatin.

Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial.

Background: Spinal muscular atrophy (SMA) is an autosomal recessive disease where a deficient amount of SMN protein leads to progressive lower motor neuron degeneration. SMN-enhancing therapies are now available. Yet, fatigue and signs of impaired neuromuscular junction (NMJ) transmission could contribute to SMA phenotype.

Clinical trials in pediatric ALS: a TRICALS feasibility study.

Pediatric investigation plans (PIPs) describe how adult drugs can be studied in children. In 2015, PIPs for Amyotrophic Lateral Sclerosis (ALS) became mandatory for European marketing-authorization of adult treatments, unless a waiver is granted by the European Medicines Agency (EMA). To assess the feasibility of clinical studies on the effect of therapy in children (<18 years) with ALS in Europe.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.

Objective: To identify the genetic variants associated with juvenile ALS.

Design, Setting, And Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation.

Edaravone May Prevent Ferroptosis in ALS.

Radicava™ (Edaravone) was approved the Food and Drug Administration (FDA) as a new treatment for amyotrophic lateral sclerosis (ALS). Edaravone is a synthetic antioxidant that specifically targets oxidative damage interacting with lipid radicals in the cell. In ALS disease the multiple cell types are involved in devastating loss of motor neurons.

What is the right moment for noninvasive ventilation in amyotrophic lateral sclerosis?

Introduction: The most common cause of death in patients with amyotrophic lateral sclerosis (ALS) is respiratory failure, often in the period of 2-5 years, with a small percentage of patients surviving up to 10 years or more. The aim of the study was to evaluate the significance of pulmonary function tests in prediction of mortality and definition of indications for noninvasive mechanical ventilation (NIMV).

Material And Methods: This retrospective-prospective study was performed at the Clinic of Pulmonology, Clinical Centre of Serbia in the period from January 2015 to December 2017.

Validation of the Serbian version of inflammatory Rasch-built overall disability scale in patients with chronic inflammatory demyelinating polyradiculoneuropathy.

Inflammatory Rasch-built overall disability scale (I-RODS) seems to be a valid activity measure for use in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our aim was to translate and validate the I-RODS for use in CIDP patients from Serbia. Study comprised 83 patients diagnosed with CIDP.

Quality of life in patients with polyneuropathy associated with different types of monoclonal gammopathy of undetermined significance.

Polyneuropathy associated with monoclonal gammopathy of undetermined significance (MGUS-PNP) has a chronic and slowly progressive course but can lead to significant disability and reduced quality of life (QoL). The aim of this study was to analyze QoL in MGUS-PNP patients and to determine its predictors. Our study included 51 patients diagnosed with MGUS-PNP (23.

One-year follow-up study of neuropathic pain in chronic inflammatory demyelinating polyradiculoneuropathy.

We sought to gather information about frequency and features of neuropathic pain (NeP) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients and to investigate course of NeP during 1-year follow-up. Study included 105 patients diagnosed with CIDP. Patients with diabetes (N = 26) were excluded.

Quality of life in patients with multifocal motor neuropathy from Serbia.

Introduction And Aim: Multifocal motor neuropathy (MMN) is a rare, chronic disorder with potentially severe and progressive disability, which may affect patients' quality of life (QoL). Since there is still small number of studies that predominantly investigated QoL in patients with MMN, we sought to analyze QoL in these patients.

Materials And Methods: Our study comprised 17 patients diagnosed with MMN at the same clinic.

Three-Year Follow-Up Study in Patients with Guillain-Barré Syndrome.

Unlabelled: A majority of patients with Guillain-Barré syndrome (GBS) have tendency of a good recovery. Our aim was to evaluate the outcome of the disease 1 and 3 years after GBS symptom onset.

Methods: During 2014, GBS was diagnosed in 82 patients in seven tertiary healthcare centers.

Survival and mortality of adult-onset myasthenia gravis in the population of Belgrade, Serbia.

Introduction: The objective of this study was to estimate mortality and survival in a large cohort of myasthenia gravis (MG) patients from Belgrade, Serbia, during the period 1979-2008.

Methods: Data for all patients with MG were collected from hospital records and the Belgrade MG Registry.

Results: Within the 30-year study period, death occurred in 107 (20%) of 562 patients with MG, with MG-related fatality below 2%.