Ivana Novakovic

Publications (2)6.47 Total impact

• Article: A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia.

  Marina V Svetel, Gordana Djuric, Ivana Novakovic, Valerija Dobricic, Elka Stefanova, Nikola Kresojevic, Aleksandra Tomic, Milena Jankovic, Igor Petrovic, Tatjana Pekmezovic, Vladimir S Kostic
  [show abstract] [hide abstract]
  ABSTRACT: Brain-derived neurotrophic factor (BDNF) modulates neuroplasticity. A functional polymorphism [Val66Met (G196A)] in BDNF has been reported to modify cortical plasticity in humans. Physiologic investigations have revealed that dystonia might be a consequence of the pathologic plasticity of the sensorimotor cortex. We aimed to investigate the role of the Val66Met polymorphism in a cohort of Serbian patients with adult-onset primary focal and segmental dystonia (PTD). One hundred and forty-nine patients with primary adult-onset PTD, 194 patients with Parkinson's disease (PD), and 366 healthy control subjects were recruited for the study. Patients with PTD and PD, as well as healthy controls had a similar distribution of genotypes and allele frequencies. There was no any significant difference in the allelic distribution at the Val66Met SNP of the BDNF gene among patients with adult-onset PTD, PD, and healthy volunteers from the same geographic areas. In addition, the presence of the Met allele did not influence the clinical characteristics of PTD patients. Patients with the Met variant did not differ by age at onset, number of affected regions, and efficacy of a sensory trick. Met66Met is not associated with an increased risk of dystonia.
  Acta neurologica Belgica 02/2013; · 0.54 Impact Factor
• Article: Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.

  Valerija Dobricic, Elka Stefanova, Milena Jankovic, Nicole Gurunlian, Ivana Novakovic, John Hardy, Vladimir Kostic, Rita Guerreiro
  [show abstract] [hide abstract]
  ABSTRACT: Alzheimer's disease (AD) is the most common form of dementia. To date, more than 200 mutations in three genes have been identified as cause of early-onset autosomal dominant inherited AD. The aim of this study was to characterize the mutation spectrum and describe genotype-phenotype correlations in Serbian patients with positive family history of AD or/and early-onset AD. We performed a genetic screening for mutations in the coding regions of Presenilins 1 and 2 (PSEN1 and PSEN2), as well as exons 16 and 17 of the Amyloid Precursor Protein gene (APP) in a total of 47 patients from Serbia with a clinical diagnosis of familial and/or early-onset AD (mean age at onset of 60.3 years; range 32-77). We found one novel mutation in PSEN1, one novel variant in PSEN2, and three previously described variants, one in each of the analyzed genes. Interestingly, we identified one patient harboring two heterozygous mutations: one in APP (p.L723P) and one in PSEN1 (p.R108Q).
  Neurobiology of aging 01/2012; 33(7):1481.e7-12. · 5.94 Impact Factor