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Aims: To investigate association of the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene with clinical features in Serbian patients with Parkinson's disease (PD). Methods: The study comprised 177 consecutive PD patients. A comprehensive set of clinical scales was applied in all patients. The controls (n = 366) were recruited among students. Single nucleotide polymorphisms (SNPs; rs6265) were analyzed using TaqMan assays. Results: PD patients (118 males) were aged 58.9 ± 10.9 years, with a mean age at onset of 49.0 ± 11.2 years. PD patients and controls had a similar distribution of genotypes and allele frequencies. The presence of the Met allele did not influence the clinical characteristics of PD patients (age at onset, family history, gender, disease duration, form of the disease, initial symptoms, cognitive abilities, depression, anxiety, disease severity, severity of motor and prevalence of nonmotor symptoms, and development of motor complications). Conclusion: Overall, the Val66Met polymorphism did not modify the clinical features in PD patients.

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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.

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