Search Results

You are looking at 1 - 2 of 2 items for :

  • Refine by Access: all x
Clear All
Restricted access

Katherine Leaver, Aaron Viser, Brian H. Kopell, Roberto A. Ortega, Joan Miravite, Michael S. Okun, Sonya Elango, Deborah Raymond, Susan B. Bressman, Rachel Saunders-Pullman, and Marta San Luciano

P athogenic variants of the leucine-rich repeat kinase 2 ( LRRK2 ) gene have been identified as a leading genetic cause of Parkinson disease (PD). 1 The most common LRRK2 pathogenic variant is the glycine to serine substitution at position 2019 (G2019S), which is present in approximately 1% of patients with sporadic PD and 4% of patients with familial PD. 2 Patients with G2019S LRRK2 parkinsonism (LRRK2-PD) develop a motor phenotype similar to those with idiopathic PD (IPD). This motor phenotype includes asymmetrical resting tremor, bradykinesia and

Full access

Georgia Xiromerisiou, Efthimios Dardiotis, Vaïa Tsimourtou, Persa Maria Kountra, Konstantinos N. Paterakis, Eftychia Z. Kapsalaki, Kostas N. Fountas, and Georgios M. Hadjigeorgiou

identified 168601 PARK2 PRKN AR; most common cause of recessive juvenile PD 602544 PARK3 SPR? AD 602404 & 182125 PARK4 SNCA AD 168601 PARK5 UCHL1 AD 191342 PARK6 PINK1 AR; 2nd most common cause of recessive juvenile PD 605909 PARK7 DJ-1 AR 606324 PARK8 LRRK2 AD; most common cause of dominant PD 607060 PARK9 ATP13A2 AR; PD plus dementia & spasticity 606693 PARK10 unknown ? 606852 PARK11 GIGYF2? AD 607688 PARK12 unknown ? 300557 PARK13 Omi/HTRA2 ? 610297