Overview of included studies for PARK-SYNJ1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Xie, 2019 Family study 2 A 50% 46(+/-8) p.Tyr832Cys: hom
Hong, 2018 Family study 2 n.a. 50% 30(+/-2) p.A860Gfs*5
+ p.Pro1282Leu: comp. het.
Ben Romdhan, 2018 Family study 2 n.a. 50% 19(+/-4) p.Lys1321Glu
+ p.Leu1406Phefs*42: comp. het.
Taghavi, 2017 Other/Mixed 1 n.a. 100% 24 p.Arg839Cys: hom
Rauschendorf, 2017 Family study 2 C 100% 14(+/-1) p.Trp171*
+ p.Arg258Gln: comp. het.
Kirola, 2016 Family study 2 I 50% 15(+/-4) p.Arg459Pro: hom
Olgiati, 2014 Family study 2 C 50% 22(+/-8) p.Arg258Gln: hom
Quadri, 2013 Other/Mixed 2 C 50% 25(+/-4) p.Arg258Gln: hom
Krebs, 2013 Family study 2 n.a. 50% 21(+/-1) p.Arg258Gln: hom