Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia (Articolo in rivista)

Type
Label
  • Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia (Articolo in rivista) (literal)
Anno
  • 2009-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/j.1468-1331.2009.02633.x (literal)
Alternative label
  • Martino D, Muglia M, Abbruzzese G, Berardelli A, Girlanda P, Liguori M, Livrea P, Quattrone A, Roselli F, Sprovieri T, Valente EM, Defazio G. (2009)
    Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia
    in European journal of neurology (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Martino D, Muglia M, Abbruzzese G, Berardelli A, Girlanda P, Liguori M, Livrea P, Quattrone A, Roselli F, Sprovieri T, Valente EM, Defazio G. (literal)
Pagina inizio
  • 949 (literal)
Pagina fine
  • 952 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 19 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy; Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy; Institute of Neurology, Magna Graecia University of Catanzaro, Catanzaro, Italy; Department of Neurosciences, Ophthalmology and Genetics, University of Genoa, Genoa, Italy; Department of Neurological Sciences, NEUROMED, ''Sapienza'' University, Rome, Italy; Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina, Messina, Italy; IRCCS CSS Mendel Institute, Rome, Italy; School of Motor Sciences, University of Bari, Bari, Italy (literal)
Titolo
  • Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia (literal)
Abstract
  • Background and purpose: Adult-onset dystonia may be related, amongst other fac-tors, to abnormal neuronal plasticity in cortical and subcortical structures. Brain-derived neurotrophic factor is a major modulator of synaptic efficiency and neuronal plasticity. Recent works documented that a single nucleotide polymorphism (SNP) of the BDNFgene, the Val66Met SNP, modulates short-term plastic changes within motor cortical circuits. In this study we aimed at exploring the effect of this SNP upon the risk of developing common forms of primary adult-onset dystonia. Methods:We explored the influence of the Val66Met SNP of theBDNFgene on the risk of cranial and cervical dystonia in a cohort of 156 Italian patients and 170 age- and gender-matched healthy control subjects drawn from the same population. Results: The presence of the rare Met allele was not significantly associated with the diagnosis of dystonia (age- and gender-adjusted odds ratios of 1.22,P= 0.38). The study had a >90% power to detect a 50% change in the risk of developing cranial-cervical dystonia associated with the presence of the Met allele. Moreover, there was no relationship between Val66Met SNP and age at dystonia onset or type of dystonia. Conclusion: Our data do not support the common variant Val66Met of theBDNF gene as an etiologic factor shared by the various forms of primary adult-onset dystonia. (literal)
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