Medline ® Abstract for Reference 52
of 'Clinical features and diagnosis of restless legs syndrome/Willis-Ekbom disease and periodic limb movement disorder in adults'
52
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The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome.
AU
Lahut S, Vadasz D, Depboylu C, Ries V, Krenzer M, Stiasny-Kolster K, Basak AN, Oertel WH, Auburger G
SO
Neurogenetics. 2014 Aug;15(3):189-92. Epub 2014 May 27.
Gain-of-function mutations of alpha-synuclein (SNCA) are known to trigger Parkinson's disease (PD) with striatal dopaminergic deficits and a reduction of spontaneous movements. The longest size variant (allele 2) of the complex microsatellite repeat Rep1 within the SNCA gene promoter is known to confer a PD risk. We now observed this Rep1 allele 2 to show significantly decreased frequency in restless legs syndrome (RLS) in a genotyping study of 258 patients versus 235 healthy controls from Germany. Given that RLS is a disease with increased spontaneous movements and with increased striatal dopamine signaling, these novel data appear plausible. The scarcity of this alpha-synuclein gain-of-function variant in RLS might suggest that a low alpha-synuclein function via the SNARE complex in presynaptic vesicle release and neurotransmission of the striatum contributes to RLS pathogenesis.
AD
Neurodegeneration Research Laboratory, Molecular Biology and Genetics Department, Bogazici University, 34342, Istanbul, Turkey.
PMID