Ana Kosac

Clinic of neurology and psychiatry for children and youth, Belgrade, Serbia · Neurology

Aim It has been reported that in patients with spinal muscular atrophy (SMA), lower levels of motor function are associated with hyperleptinemia. Additionally, hyperleptinemia has been found to be more frequent in underweight SMA patients. Therefore, we aimed to analyze serum leptin levels in patients with SMA. Method This was a cross-sectional st...

Background: Clinical course variability in Duchenne muscular dystrophy (DMD) is partially explained by the mutation location in the DMD gene and variants in modifier genes. We assessed the effect of the SPP1, CD40, and LTBP4 genes and DMD mutation location on loss of ambulation (LoA). Methods: SNPs in SPP1-rs28357094, LTBP4-rs2303729, rs1131620,...

We aimed to estimate the prevalence of glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy (SMA) types 2 and 3. A cross-sectional study was conducted. Medical history, anthropometric measurements, pubertal status, blood chemistry (glucose and insulin levels, lipid profile, aminotransferases, and hemoglobi...

Background: It is unclear whether the heart is affected in pediatric patients with milder forms of spinal muscular atrophy (SMA). Therefore, we aimed to determine the presence of any cardiac abnormalities in these patients. Methods: We conducted a cross-sectional study of children and adolescents with SMA types 2 and 3 between July 2018 and July 20...

Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopathy. The study comprised 19 patients with genetically confirmed calpainopathy diagnosed at the Neurology Clinic,...

Background: Clinical nerve conduction studies (NCS) are often used as a secondary outcome measure in therapeutic trials, but show a high degree of inter-trial variability even when technical factors known to affect the recorded responses are minimised. This raises the intriguing possibility that some of the observed variability may reflect true ch...

Background Aim. Common features of tuberous sclerosis complex (TSC) arise from the formation of hamartomas both in the brain and multiple organ systems, mainly due to a mutation in one of two genes, TSC1 or TSC2, with well described inter- and intrafamilial different phenotypic outcomes. The aim of this work was to make a synthesis of the patients...

Creatinine phosphokinase (CPK) elevated levels in blood are distinguished marker of neuromuscular diseases, especially myopathies, but can be found in great number of diseases as in hearth and brain tissue damages, some endocrine disturbances, malignant diseases, toxic and unwanted effects, febrile states, excessive motor activity. In inherited pol...

Spinal muscular atrophy (SMA) is caused by functional loss of the survival of motor neuron 1 (SMN1) gene. Despite genetic homogeneity, phenotypic variability indicates the involvement of disease modifiers. SMN1 is located in 5q13.2 segmental duplication, enriched in genes and prone to unequal rearrangements, which results in copy number polymorphis...

Objective Autosomal recessive axonal neuropathy with neuromyotonia and mutation in HINT1 gene form a new disease entity among the myotonic syndromes (Zimon M et al, 2012) and presents one of the most frequent genotype within CMT2/HMN (Lassuthova et al, 2014). Purpose: To present clinical and neurophysiology problems in diagnostic procedure of HINT1...

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy during childhood. Mutations in dystrophin (DMD) gene are also recognized as a cause of cognitive impairment. We aimed to determine the association between intelligence level and mutation location in DMD genes in Serbian patients with DMD. Forty-one male patients with DM...

Juvenile myoclonic epilepsy is considered to be a chronic disease requiring lifelong antiepileptic treatment. The aim of this study was both to identify factors predicting the kind of seizure control and to investigate the outcome in patients after therapy withdrawal. The study included 87 patients (49 female, 38 male), aged from 17.5 to 43.5 years...

Introduction: L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma. In this condition clinical features mainly consist of mental deterioration, ataxia and motor deficits. Case o...

Introduction: Congenital myasthenic syndromes are a heterogeneous group of inherited neuromuscular disorders. Neurophysiological testing has a major role in screening suspected cases and guiding genetic testing. We performed a systematic literature review to ascertain whether sufficient age‐specific normative data exist for these techniques. Method...

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age,...