Overview of included studies for PARK-ATP13A2:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Park, 2011 Other/Mixed 2 A 50% 17(+/-0) p.Leu1059Arg
+ p.Leu1085Trpfs*4: comp. het.
Crosiers, 2011 Family study 1 n.a. 100% n.a. p.Phe851Cysfs*6: hom
Paisán-Ruiz, 2010 Other/Mixed 2 n.a. 50% 17(+/-1) p.Thr368Argfs*29: hom
Ning, 2008 Other/Mixed 1 n.a. 0% 22 p.Phe182Leu: hom
Di Fonzo, 2007 Other/Mixed 1 n.a. 100% 12 p.Gly504Arg: hom
Ramirez, 2006 Family study 9 n.a. 78% 14(+/-2) p.Tyr1020Thrfs*3
+ p.Gly399_Leu435del: comp. het.
p.Leu552Profs*238: hom