The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome

作者：Lahut Suna; Vadasz David; Depboylu Candan; Ries Vincent; Krenzer Martina; Stiasny Kolster Karin; Basak A Nazli; Oertel Wolfgang H; Auburger Georg^*

来源：Neurogenetics, 2014, 15(3): 189-192.

DOI：10.1007/s10048-014-0407-z

• Parkinson%26apos
• s disease
• Alpha-synuclein
• Rep1
• Restless legs syndrome

Gain-of-function mutations of alpha-synuclein (SNCA) are known to trigger Parkinson%26apos;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.

• 出版日期2014-8