title: A common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystonia.
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.
authors: Clinic of Neurology CCS, School of Medicine, University of Belgrade, Dr. Subotica Starijeg 6, 11000, Belgrade, Serbia. marinasvetel@gmail.com
authors: Marina V
authors: MV
authors: Svetel
authors: Gordana
authors: G
authors: Djuric
authors: Ivana
authors: I
authors: Novakovic
authors: Valerija
authors: V
authors: Dobricic
authors: Elka
authors: E
authors: Stefanova
authors: Nikola
authors: N
authors: Kresojevic
authors: Aleksandra
authors: A
authors: Tomic
authors: Milena
authors: M
authors: Jankovic
authors: Igor
authors: I
authors: Petrovic
authors: Tatjana
authors: T
authors: Pekmezovic
authors: Vladimir S
authors: VS
authors: Kostic
mesh_terms: D000328:Adult; D017668:Age of Onset; D000704:Analysis of Variance; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D016017:Odds Ratio; D010300:Parkinson Disease / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014633:Valine / Q000235:genetics
chemical_list: D019208:Brain-Derived Neurotrophic Factor; D008715:Methionine; D014633:Valine