PMID- 23381842
OWN - NLM
STAT- MEDLINE
DCOM- 20140507
LR  - 20130830
IS  - 2240-2993 (Electronic)
IS  - 0300-9009 (Linking)
VI  - 113
IP  - 3
DP  - 2013 Sep
TI  - A common polymorphism in the brain-derived neurotrophic factor gene in patients 
      with adult-onset primary focal and segmental dystonia.
PG  - 243-5
LID - 10.1007/s13760-013-0183-9 [doi]
AB  - 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.
FAU - Svetel, Marina V
AU  - Svetel MV
AD  - Clinic of Neurology CCS, School of Medicine, University of Belgrade, Dr. Subotica 
      Starijeg 6, 11000, Belgrade, Serbia. marinasvetel@gmail.com
FAU - Djuric, Gordana
AU  - Djuric G
FAU - Novakovic, Ivana
AU  - Novakovic I
FAU - Dobricic, Valerija
AU  - Dobricic V
FAU - Stefanova, Elka
AU  - Stefanova E
FAU - Kresojevic, Nikola
AU  - Kresojevic N
FAU - Tomic, Aleksandra
AU  - Tomic A
FAU - Jankovic, Milena
AU  - Jankovic M
FAU - Petrovic, Igor
AU  - Petrovic I
FAU - Pekmezovic, Tatjana
AU  - Pekmezovic T
FAU - Kostic, Vladimir S
AU  - Kostic VS
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130205
PL  - Italy
TA  - Acta Neurol Belg
JT  - Acta neurologica Belgica
JID - 0247035
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - AE28F7PNPL (Methionine)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Analysis of Variance
MH  - Brain-Derived Neurotrophic Factor/*genetics
MH  - DNA Mutational Analysis
MH  - Dystonic Disorders/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Methionine/genetics
MH  - Middle Aged
MH  - Odds Ratio
MH  - Parkinson Disease/genetics
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Valine/genetics
EDAT- 2013/02/06 06:00
MHDA- 2014/05/08 06:00
CRDT- 2013/02/06 06:00
PHST- 2012/08/23 00:00 [received]
PHST- 2013/01/19 00:00 [accepted]
PHST- 2013/02/06 06:00 [entrez]
PHST- 2013/02/06 06:00 [pubmed]
PHST- 2014/05/08 06:00 [medline]
AID - 10.1007/s13760-013-0183-9 [doi]
PST - ppublish
SO  - Acta Neurol Belg. 2013 Sep;113(3):243-5. doi: 10.1007/s13760-013-0183-9. Epub 
      2013 Feb 5.