General Physiology and Biophysics Vol.32, No.1, p.55–66, 2013
|Title: Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients|
|Author: Csaba Bognar, Marian Baldovic, Jan Benetin, Ludovit Kadasi, Andrea Zatkova|
Parkinson disease (PD) is a chronic neurodegenerative movement disorder characterized by selective loss of nigrostriatal dopaminergic neurons and formation of Lewy bodies. Clinical manifestations include motor impairments involving tremor, bradykinesia, postural instability and rigidity.
Furthermore, we observed the presence of one exonic (LRRK2 ex 48: 7155A>G) and eight intronic polymorphisms (in LRRK2: IVS35+23T>A, IVS47-91insGCCAT, IVS47-91insGCAT, IVS47-41A>G, IVS47-9delT, IVS47-20C>T, IVS47-90A>G, in parkin: IVS2+25T>C), three of which were novel.
|Keywords: dHPLC — p.Arg275Trp — Parkinson disease — Parkin polymorphism — LRRK2 polymorphisms|
|Year: 2013, Volume: 32, Issue: 1||Page From: 55, Page To: 66|